Gene Guides

Welcome to the guides - an interactive resource designed to stimulate discussion and elicit consumer values on a variety of important issues relating to genetics and biotechnology. All guides are integrated with the Genetizen – a blog authored by experts in the field of bioethics, genetics, and healthcare who comment on and analyze current developments in the field.

A key feature of the guides is its peer-review capability or the ability for visitors to contribute and interact with content. Like most blog sites, comments are enabled at the bottom of every page. However, if you'd like to submit your own story to be added to the guide content lists, please use the "Your Stories" button on the menu bar.

Public Policy Partnership Process

Geneforum's Public Policy Partnership (PPP) process lies at the heart of Geneforum's spectrum of strategies for helping to guide the formation of genetic/genomic policy at the state level in the area of genetic privacy and research.

We suggest the PPP process as a more generalizable model for addressing the governance of emerging technologies, both within the field of genetics/genomics and outside of it.

Following are some general statements and observations to frame the details of the process.

Four Goals


The challenge: How do we translate the diversity of public values and opinions into a policy position that most people are able to accept?

The PPP (Geneforum) process stays out of interest group advocacy, party politics, and lobbying. Geneforum, using the partnership approach, doesn’t act as provocateur, or as a social critic—that’s the “Protest Model.” Geneforum follows a rational model in our citizen deliberations and in front of policy makers.

Technology policy decisions should not be made by bureaucratic fiat. The role of the expert is clear and necessary in describing what is possible, but cannot and should not be expected to present the broad values that inform a just democracy. People must decide for themselves.

In the PPP process, the values of policy makers, experts and citizens all have equal weight in the policy process. As a result, more efficient policy occurs downstream.

The PPP community meetings do not offer “know how” information. We do offer important “know-why” information to the policy making endeavor, along with input from technical experts, advocates, lobbyists, and organized civic groups. Participants will offer stories as examples of outcomes drawn from, for example, an issue like DTC genetic testing; genetic privacy; biobanking; or whole genome sequencing which they fear or hope for.

There are four broad goals of Geneforum’s public participation/engagement process:

  1. Education: To increase the capacity of citizens to understand the impact and relevance of genetics to their lives. Scientific facts are the foundation by which Geneforum explains and conveys these issues to the general public.
  2. Information Transfer: To increase public participation. Geneforum promotes dialogue with the public using techniques that include an interactive Web site, partnerships with the media, public forums, community presentations, academic partnerships, and research. As a result, citizens are better able to understand, influence public policy and make informed decisions about the complex social and ethical dimensions surrounding genetic research and biotechnology.
  3. Public Consultation: To inform key stakeholders through the measurement and monitoring of public values. Using its online and offline resources, Geneforum obtains and transmits values held by the public to policy makers, scientists, and healthcare practitioners.
  4. Building Community: Acting together or building bonds of solidarity with one another in pursuit of our common good, the most difficult, most frequently omitted and the most important dimension for the full exercise of democracy.
A goal of education alone stops short of policy development. It does not draw the public into participatory behaviors that would give substantive involvement in those future decisions. Without deliberation, personal issues will remain just that. The new genetics do not simply create personal troubles. They create public problems.

A Qualitative Process


The PPP process has something in common with qualitative research. The similarity with qualitative research lies in the analysis and organization of the participants thoughts about hopes and worries into conceptual categories that can serve as a checklist for the receptor site (an entity that legitimately can take action) as it finalizes its decisions about options that will give specific shape to its comprehensive plan.

Geneforum also uses online blogging, public forums, town hall meetings, and surveys for public deliberation on issues where citizens explore benefits, costs and consequences generated by the different levels of community meetings (see implementation process).

From the outset, all with a stake (legislators, citizens, experts, conveners, receptor site) are involved in authentic ways; all have a role in the final agreement; a “bottom-up” process. Public concerns are authentically addressed.

Our experience in Oregon indicates that engaging the general public in complex public policy issues works best when policy makers, the public, and technical expert are understood partners in a common endeavor and as members of the same community with different roles to play in serving the common good.

“Common good” refers to those goods held by a people in common (e.g., public education, culture, penology, and law). It is closely linked to the idea of a republic—which refers to those public things (the res publica ) around which a constitution is created. To hold things in common is the preface to governing in common, which is why republicanism is generally the condition for democracy. It is, in fact, the set of terms around democracy, including citizenship, civic liberty, community and the commons, that are put at risk by the forces associated with globalization.

A deficit of scientific knowledge (scientific literacy) amongst the general public often leads policy makers to rely solely upon expert input and omit or trivialize the ordinary citizen’s role in policy development. However, citizens do not need sophisticated technical knowledge about genomics to play a valuable consultative role in the policy process, namely articulating values that inform the common good of their community. For example, how private genetic information should be used is not a factual matter to be decided by experts, but a value emergent from the community.

Fact-Value Separation


Facts describe something about the way the world is now or could be in the future. Facts also describe the way people or social institutions typically behave now or are likely to behave in the future.

Values name what it is about some state of the world or social behavior that we find attractive, desirable, and admirable (or repugnant, undesirable, or shameful).

From Values to Policy: Four Phases

  1. Identification of a clear policy connection (i.e., generating the core values of citizens BEFORE positions have hardened and policy solutions have been formed).
  2. Activating the community resource network (i.e., tapping into community organizations and individual leaders and their constituencies, enclaves with a feeling of community; training cadre of volunteer community meeting facilitators and table leaders to be active listeners and NOT educators capable of getting to “Why is that important to you?”). It is important that the citizen discourse is not overwhelmed by the values of the expert/technocrat.
  3. Gathering and synthesizing the check list(s) of citizen values into a policy guideline (i.e., summary report(s) using an on-line Delphi Method performed iteratively until there is agreement among those participating in the review process drawn from each of the off-line sites).
  4. Advising the primary policy audience (i.e., receptor site/legislator) via a Final Report which reflects input from a) the public; b) experts; and c) policy decision makers. The goal is to produce a document more difficult to dismiss and easier to apply to decision-making than the report generated by the typical public consultation process.

Surveys force people into boxes. The PPP process comes without a box.

Collaborative Governance & Framing

Collaborative Governance

Geneforum’s style of engagement is committed to democratic practice, not advocacy.

As point of departure, a Sponsor, Receptor Site, and/or Legislator identifies and raises an issue (or opportunity) that calls for a collaborative (partnership) response.


Conveners (e.g., Geneforum) and participants (citizens and experts) frame (or reframe) the issue to open the way for deliberation (e.g., create scenarios/framing workshops designed to stimulate participants’ thoughts, imaginations, and feelings -- a stimulus for discussion.

Framing sessions consist of several steps:

  1. Participants share perspectives and experiences;
  2. Develop approaches to solving the problems reflective of underlying group values and principles;
  3. ID benefits, drawbacks, actions for implementation and unintended consequences and trade-offs for each approach.

Community Meetings: Facilitation Process

Community meetings aim at gathering expressions of hopes and concerns about issues raised by emerging (bio)technologies in genomics (such as stem cell research, biobanking, DTC genetic testing) nanotechnology, neuroscience and synthetic biology from various communities around Oregon.

Our meetings are part of a larger process. We're assembling a series of conversations on behalf of the Oregon Legislature’s Advisory Committee on Genetic Privacy and Research (ACGPR) relevant to its statutory mandate of public education and soliciting public values from Oregonians.

There are other important dimensions of the committee’s public accountability.  They include consultation with a variety of technical experts. They have an open door for input from legislators with an interest in the topic under consideration and from advocates, lobbyists, and organized civic groups. 

Geneforum’s meetings contribute to that whole process.  We don't offer technical "know-how" information.  We do offer important "know-why" information.


The discourse we have designed for these meetings has the following structure.

1. Setting the context

  • An overview by the ACGPR’s spokesperson describes in general terms the policy task of the committee.
  • This anchors the meeting discussions in the domain of genetic privacy policy as it is being addressed by the Oregon State Legislature at the present time.

2. Small group discussion of scenarios

  • Responding to scenarios stimulates thoughts, imaginings, and feelings in individuals.
  • The Table Leaders (TLs) help their group articulate the values imbedded in their initial judgments about the scenarios.
  • The use of flip charts at each table creates an external memory for the group. This technique allows individuals to experience the extent to which their hopes and concerns about genetic privacy are shared with others. This creates a framework for a discussion of the relationship of genetic privacy to the community’s common good.

3. Reporting from the tables

  • The Meeting Facilitator (MF) using a round robin technique leads the process of reporting from the tables.
  • Table Leaders make the reports.
  • The Scribe working with the meeting Facilitator captures on a “graffiti wall” the various ideas that emerge in the table reports. (A graffiti wall is a wide clear wall covered with flip chart pages.)  Like the flip charts at the tables, this graffiti wall serves as an external memory for the whole group.
  • The reporting process brings out shared perceptions of the common good among the tables as well as capturing unique insights.

4. General discussion

  • The Meeting Facilitator leads a brief period of general discussion after the reporting is completed.
  • This helps clarify thoughts and perceptions.
  • It also serves as a stimulus for new ideas not yet expressed.

5. Final “Thank you” from spokesperson

  • This closure statement reminds the participants that their discussion connects them with the work of the ACGPR.  It also invites their continuing attention to the long-term process of genetic privacy and its relationship to the common good of Oregonians.

Policy Outcomes

The PPP process can deliver three possible outcomes to policy makers:

  1. Confirm the policy maker's previously held assumptions;
  2. Warn policy makers about areas of the proposed policy which may be sensitive or unacceptable to the community;
  3. Generate an insight (sometimes from a single individual) which will give a new (and unexpected) direction to the policy discussion and, ultimately, the policy, itself.

The University of Michigan, Genetics Public Policy Center, Genetic Alliance for example—in the mode of advocacy groups mobilized around a cause—use a (top-down) "Recitation Model" with an emphasis on public engagement mobilized to bring a group of (demographically non-representative) individuals (lay, experts, policy makers, etc.) together into a guided-focus group discussion designed to deliver some important ideas to policy makers. This process captures what people bring into the room with them (interest, knowledge, etc.). A small amount of directed education also takes place.

The PPP process leads to a more educated policy maker about technical issues and public values. The PPP process also leads to ongoing public education (improved science literacy), and ultimately to a more efficient science and technology policymaking process.

Is the world mired in what might be called a "democratic recession?" US policy makers should view democracy not just as a "right," but also as a "choice." A functioning democracy requires a society-wide agreement on issues of national importance (e.g., genetic discrimination, human biobanks and genetic research databases, genetic enhancement, genetic testing, genome-wide screening) designed to provide checks and balances that disperse political power and protect the rights of minorities.

Scientists tend to treat communication as an after-thought. They’re often not working with social scientists, industry, or organized civic groups to build a channel to the public.

Gene Doping Guide

On February 11, 2005, Geneforum and Portland State University co-sponsored a public forum on the subject of gene doping. The public forum brought together a top scientist, an Olympic athlete, a top bioethicist and a NPR sports journalist. The objective of the forum was to provide the public with an overview of the science and ethical, legal and social issues associated with gene doping (see Expert Presentations link below). This guide is designed to continue that conversation.

The Gene Doping guide is integrated with the Genetizen – a blog authored by experts in the field of bioethics, genetics, and healthcare who comment on and analyze current developments in the field.

A key feature of this guide is its peer-review capability i.e., the ability for visitors to contribute and interact with the content. Comments are enabled at the bottom of every page. However, if you'd like to submit your own story click Your Stories on the menu bar.

2008 Olympics and Genetics

"We are not yet at a point where we can identify a potential future Olympic champion from genetic tests but we may not be very far away," said one of the authors of the British Association of Sport and Exercise's (BASE) position paper on "Genetic Research and Testing in Sport and Exercise Science."

However, BASE calls for more genetic research in the sport and exercise sciences because of the anticipated benefits for public health. It wants researchers to take a more active role in debating the implications of their work with the public.

"If a powerful muscle growth gene was identified, on the one hand this could help develop training programmes that increase muscle size and strength in athletes, but even more importantly the knowledge could be used to develop exercise programmes or drugs to combat muscle wasting in old age," said Dr Alun Williams from Manchester Metropolitan University, one of the report's authors.

The organization's well written statement concludes:

"...genetic research in the sport and exercise sciences offers the potential to make major new discoveries, which will further our understanding of the physiology and pathophysiology of sport and exercise. Important applications may result and we are likely to gain insight into the mechanisms that control some of the most studied variables in sport and exercise science. Genetic research is ethically assessed like other medical research and, given that this process is deemed robust, genetic research should be a welcome addition to the sport and exercise sciences. However, unwanted or illegal applications can result from genetic and other research even if this research is deemed to be ‘ethical’. For example, the production of recombinant human erythropoietin (EPO) has not only improved the treatment of anaemic patients but has led to the misuse of EPO by endurance athletes which has probably led to the death of several athletes. Researchers should therefore try to anticipate the potential negative effects of their work and engage publicly in debates about their research."

Earlier this year, scientists at the Taipei Physical Education College announced that they are developing a gene bank containing DNA from super performing athletes from Taiwan. Here's an interesting quote:

Hsu claimed that by looking at the saliva of New York Yankees pitcher Wang Chien-ming, the reseachers can find out why Wang plays so well and whether other children who like to play baseball could one day become a second Wang Chien-ming.

Currently, the TPEC Ace Athlete Genome Bank has collected genetic samples from several top Taiwan athletes who have won Olympic medals, including taekwondo fighters Chen Shih-hsin, Chu Mu-yen and Huang Chih-hsiung.

After analyzing the three Olympic medalists' saliva, Hsu said, the researchers have found that Chen not only have "deletion (D) "polymorphism in the Angiotensin Converting Enzyme (ACE) gene of her 17th chromosome, the "insertion (I) " polymorphism -- usually only found in ace male athletes' genes -- also exists in the ACE gene of her 17th chromosome.

Geneforum sponsored an event a few years ago on the future of genetics and sports. Materials from the event, along with other interesting articles on genetics and sports, are available in the Gene Doping Forum.

(Image: From BASE's report)

Expert Presentations on Genetic Enhancement and Sports

Click the links below to access powerpoint, audio and video files. Note: You may want to download the powerpoint slides prior to accessing the video/audio files.

Complete information about the event is available here.

UPDATE: The Seattle Times is publishing "Getting a Boost," a three-part series on performance-enhancing drugs in sports. The first article appeared on Sunday (10/9), entitled: "Experts predict gene doping is next temptation for athletes." In addition to the article, there are a number of sidebar interviews with a full spectrum of perspectives, including a former US Olympic rower, a Olympic coach, and Dr. Friedmann.

Gene testing and the olympics

TURIN, Italy - Drug testing at the XX Winter Olympic Games will be more sophisticated, more refined, and more prevalent than it was four years ago in Salt Lake City, says TIM PANACCIO of the Philadelphia Inquirer.  He adds the following, and quotes Dick Pound, chairman of the World Anti-Doping Agency (WADA):

Among WADA's biggest challenges is testing for genetic doping. Blood samples taken at these Games will be stored for as long as four years, officials said, in hopes that the science of genetic testing will evolve on a parallel level of those using genetics for performance enhancement.

"The experts we have tell us they don't think it (genetic doping) is going to apply here," Pound said. "Even the information coming out of the trials tell us it's more inquiries than (identifying) a genetic doping agent.

"In future Games, we have to operate on the assumption there will be people out there willing to do it." Andrew Pipe, who heads the Independent Observer team at the Turin Games, said that the next phase of grand-scale testing in the future will be "retro testing" of old samples versus new samples on a genetic basis. "The state of the art approaches to detection of standards will be applied to this setting," he said, adding that he feels the procedures used now are already on the leading edge of technology.

According to the New York Academy of Sciences and the University of San Diego, which conduct programs in gene therapy, the idea behind genetic doping is to build skeletal muscle and increase production of red blood cells.

Such doping is seen as a performance enhancer under WADA's guidelines.

Whether or not gene doping is a reality, it's being looked for in Turin. Geneforum has been interested in gene doping for some time. Take part in the process by completing the gene doping survey.

Marie Godfrey, PhD

Geneforum Interview with Dr. Eric T. Juengst - Enhancement Genetics: Let the Games Begin

A Geneforum Interview with Dr. Eric T. Juengst
Professor of Medical Ethics, Oncology, and Philosophy of Science
Center for Biomedical Ethics
Case Western Reserve University

by Mark Compton

When the US National Institutes of Health first set up the National Center for Human Genome Research, concerns about the ethical dimensions of the research were so great that 5 percent of all the funds allocated to the Human Genome Project were set aside to study just those very issues. The NIH's Ethical, Legal and Social Implications Branch (ELSI, for short) was created as a result. And the first chief of that operation, from 1990 until 1994, was Dr. Eric Juengst.

Eric T. JuengstNow teaching medical ethics, oncology and the philosophy of science at the Case Western Reserve University School of Medicine, Juengst remains actively involved in efforts to set public policy. Besides serving on a steering committee that develops new initiatives for ELSI, he's also a member of the US Recombinant DNA Advisory Committee and the Federal Bureau of Investigation's DNA Advisory Board.

All of which serves to give Juengst a front-row seat to the competition to develop winning genetic interventions. But, as he freely concedes, it remains to be seen whether efforts to improve on natural genetics will ultimately prove to be a triumph of intrepid scientific endeavor or just another human comedy.

[The views and opinions expressed by the participants in this interview are not necessarily those of Geneforum, and the publication of this interview should in no way be construed as an endorsement of those views.]

[Mark Compton]: Johann Olav Koss, the Norwegian speed skating champion who won an Olympic gold medal in 1994, has since become a physician. So it was interesting to read recently that he'd been quoted as saying he believed athletes may already be employing gene engineering to achieve enhanced performance. But don't we have a way to go before we have safe and effective interventions for increasing fast-twitch muscle fibers, strength and oxygen-carrying capacity?

[Eric Juengst]: Yes, we certainly do have a way to go. But I don't think Koss could have been thinking about gene transfer experiments. He must have been talking about biosynthetic hormones and other biologicals produced through genetic engineering.

Something that's injected or taken orally as opposed to something that's inserted directly into a cell?

Right. Like EPO blood doping to increase the oxygen-carrying capacity of your blood. Well, that's a product of genetic engineering in the sense that the compound is produced by bacteria in some biotech lab. But it's not genetic engineering in the sense of actually altering the athlete's genes.

I take it, then, that you don't believe anyone is foolish enough to attempt any of the primitive gene replacement interventions that might be available at this point.

I make no representations as to degrees of foolishness. It's true that in elite sports the competition is fierce enough to drive people to do all kinds of foolish things. And it's conceivable to me that athletes and their physicians somewhere along the line might embark on just the sort of course you're suggesting. I just don't believe it would work.

But as it stands—given the obvious risks—wouldn't such treatments be in clear violation of traditional medical ethics?

Yes—as is the abuse of performance-enhancing drugs, but that's already very much in evidence today.

So an athlete bent on achieving an advantage through gene replacement is likely to have no difficulty in locating an obliging physician?

Right. Obliging physicians are not in short supply. As to whether those physicians will have the requisite technical know-how, that may be another matter.

The New York Times recently reported that as part of a 1995 survey, nearly 200 aspiring American Olympians were asked if they would take a banned substance that would guarantee victory in every competition for five years but then would cause death. More than half said they would. Despite the American tradition of giving individuals a huge amount of autonomy over their bodies, can researchers and health providers ethically permit themselves to be swayed by values that are so obviously skewed?

No, they shouldn't. But that striking survey just points out how coercive sports competition can be. And in a sense, that's the leg physicians and scientists have to stand on when they say their duty requires them to draw a line on this issue. Rather than focusing on whether we're interfering with the athletes' freedoms—their autonomy to do as they wish with their bodies—what I think we should bear in mind is that what these individuals do with their bodies ends up having a direct impact on what other athletes do with their bodies.

So people end up being persuaded to follow this path simply because they feel that not to do so would put them at a significant competitive disadvantage?

Right. The presumption is that they're all in this game together and that the pressure to win forces them to keep up with all the latest advantages, whether that's clapped skates, fiberglass vaulting poles or shark swimsuits. If anyone has one, then everyone needs to have one in order to compete. And the same goes for modifications of their own bodies. In the medical provider community, we've traditionally said, "You're free to do what you like, up to the point where your actions start affecting the interests of other people."

But even apart from considerations of social pressure, wouldn't a physician be morally obliged to at least explore the implications—that is, to encourage the patient to step back and weigh all the risks against the potential benefits?

Right. That age-old axiom in medical ethics, "first do no harm," would come into play and should give any physician pause. The risks of this are so very high that you, Mr. Athlete, need to think about the benefit:risk ratio. The question is: What considerations do you allow as part of that calculation? On strictly medical grounds, it's pretty clear that the risks outweigh the benefits. But if we're going to let the athlete factor in his own life plans, his own values, his own interests as part of the calculus, then maybe the equation balances or even comes out in favor of the interventions.

Now, of course, for all the risks and uncertainties that seem so clear today, isn't it possible that gene replacement interventions might someday prove to be quite safe and effective?

Yes. I don't think the wind is totally out of the sails for gene therapy. Obviously, in the 10 years of experience we've had, it's proven more difficult and complicated than the pioneers first thought. But that probably shouldn't come as a surprise. Biology is always more complicated than we think.

And really, is 10 years all that much time?

Exactly. I think we will, with time, develop techniques that get around a lot of the problems we're facing today. For example, one of the promising things on the horizon is the advent of new capabilities for getting DNA into human cells, which should allow us to abandon the use of viruses altogether.

And the significance of that is due to the difficulties with targeting viruses?

Yes. Difficulties with targeting and also with the kinds of immune reactions that can lead to dramatic complications, even death. And that's precisely what can happen when the body recognizes a virus as something it's seen and tried to fight off before. A better alternative would be to go with an artificial chromosome, a completely constructed package for the modified DNA that could be insinuated into the cell, where it would then behave just like the rest of our chromosomes.

With the artificial chromosomes, would it also be possible to incorporate "on" and "off" switches?

Right. That's another advantage—in theory, at least. The idea is that they could be controlled by the patient or his doctors by way of medication. You'd take a particular drug that would help to regulate the artificial chromosomes.

I can see that in certain situations—the stimulation of growth hormone, for example—you'd clearly want to be able to find the off switch at some point.

That's right. And maybe even some other capabilities beyond what the regular cellular regulatory systems would be able to provide.

Is it feasible that the day will come when technical issues are no longer even a consideration?

No, I think technical considerations will always be an issue because as we resolve certain problems, new ones will arise. We'll always be trying to do more difficult things. So that's always going to be a part of the equation, but in the foreseeable future I expect we'll be able to do some significant set of gene transfer interventions with relative safety.

Just for the sake of exploring some of the ethical dimensions, then, let's make the optimistic assumption that refined techniques capable of the success rates we tend to associate with proven medical procedures will someday be achieved. I really wonder how much angst all this will cause a few years from now. I mean, for example, a Newsweek report appearing shortly after a 1998 UCLA gene engineering conference suggested that while the genetic engineers at the conference were ethically reconciled with somatic gene therapies (which treat patients but leave their genetic legacies unaltered), they were far more dubious about germline gene replacements (which affect not only the patient but also all of the patient's descendents). In fact, it was reported in that same article that "the overwhelming majority of scientists and ethicists oppose gene therapy that changes the germline." But now, barely three years later, it would seem that—within the genetic research community, at least—most qualms having to do with germline therapies for serious human diseases have been laid to rest. Instead, most of the questions and criticisms now seem to be reserved for gene manipulations aimed at achieving enhancements beyond good health. I'm reminded of the furor and moral outrage surrounding the introduction of in-vitro fertilization techniques just over a decade ago. Now, in-vitro procedures have become quite commonplace. Does this all suggest, ultimately, that we can get used to just about anything?

Yes. I think we can get used to just about anything. The question is: Should we? Because there are a lot of things—social, environmental and interpersonal—that we live with but probably shouldn't. Does that represent a kind of complacent acceptance of a fait accompli? Or is it the result of some real change in people's thinking? I think it's a little too early to say the tide has shifted where gene therapy is concerned. If you polled the scientific community, I think you'd still find that the majority of scientists express concerns over germline interventions.

That is, if you expanded the survey to more than just the ideologically pure types that tend to appear at conferences?

Right. It's actually quite interesting to note that the main proponents for germline gene therapy in the literature over the past few years—with the exception of some prominent scientists like Lee Silver and Jim Watson—have been non-scientists. The people who've really taken up the cause, by and large, are ethicists and even some theologians.


Yes. Ted Peters at the Graduate Theological Union in Berkeley is a good example. In contrast, scientists—according to my observations, at least—remain quite cautious. For example, the report from the AAAS (the American Association for the Advancement of Science) on this topic of germline interventions takes quite a cautionary approach in its conclusions. It says that if we were ever to contemplate developing therapies aimed at the germline, the studies done to ensure their safety and efficacy would essentially have to be performed over multiple generations in order to see the effects in the offspring and their offspring. So, according to that view, we should settle back for the next 100 years before we even begin to think about launching into this.

I somehow doubt everyone is going to be quite that patient.

Right. So clearly, the sociology of the debate is still very unsettled. It's an open question, with arguments to be made on both sides. But that's different from a few years ago when everybody—critics and proponents alike—could happily agree to bracket off the whole topic for later consideration. The scientific possibilities just didn't seem quite so imminent back then. What's changed is that the science is getting much closer. I think we always believed we'd be able to work out the kinks in somatic cell gene therapy before we'd even have to think about tangling with all the ethical issues surrounding germline interventions.

So, basically, germline has appeared on the radar screen much earlier than anticipated.

That's right. And that's partly because we've discovered that it's very hard to make somatic cell interventions work the way we want them to. One way to achieve greater efficiency—to raise the levels of gene expression—is to make the changes earlier in development, pre-natally.

That certainly would eliminate the targeting problem as well.

Right. So, rather than waiting for somatic cell therapy to be perfected, we find ourselves looking at doing interventions that are functionally equivalent to germline interventions in order to achieve the goals originally set out for somatic cell therapy.

So we're more or less stumbling into germline intervention instead of addressing it directly. Isn't there some danger in that?

Sure. And that's exactly what we're seeing with the mitochondrial transplants. We've definitely stumbled into intervening in the human germline by injecting cytoplasm from one set of eggs, including mitochondria which contain their own DNA, into the eggs of another woman in order to improve her chance of fertility. That's already happened, so we've already crossed the germline barrier in that respect. And that's something that happened completely off the radar screen of public policy debate because it wasn't initially perceived as a form of germline engineering. We just weren't looking in that particular direction when it came to pass.

So the gendarmes were unaware? But was that step across the germline entirely inadvertent?

Well, it wasn't an accident because, in the paper the researchers [J. A. Barritt, et. al.] published in Human Reproduction, they were quite proud to announce that these births represented the first successful germline modification of human beings.

Always better to ask forgiveness than permission, I say.

Actually, I've used that phrase myself.

Okay, so germline interventions are with us. That's reality. But there's still the question as to where they're appropriate and where they aren't. For the most part, scientists seem to distinguish between interventions that fight serious disease and those aimed at attaining certain improvements. Assuming there is, in fact, an important moral distinction to be made between combating human disease and enhancing human traits, how do you go about drawing the line? And where do you draw that line?

That's a good question. But it's hard to answer because every trait spans an entire spectrum of considerations.

Okay, but what would be some of your chief criteria? Let's approach it that way.

The way I've seen this debate evolve is that we have three basic classes of interventions. One includes those interventions aimed at treating classic diseases—diseases that follow the medical paradigm of being diagnosable and causing suffering and having specific causes. That's one end of the spectrum. At the other end of the spectrum are those interventions that don't seem to treat a disease at all but are instead specifically aimed at enhancing normal human traits. And then in the middle—the interesting place where we're going to have to draw this line—are interventions aimed at enhancing normal traits in order to prevent classic diseases. For example, what if we want to upgrade someone's immune system so as it will be better at seeking out and destroying cancer cells? Well, in fact, there's a big class of gene therapy protocols, called Cancer Vaccination Protocols. And no one has raised the red flag and tagged these as "enhancements" because they're so clearly aimed at preventing serious disease.

Presumably, there would also be some family history or some other indicator that would merit that sort of prophylactic therapy in the first place. So we're not exactly talking about handing out sugar cubes in the school gym, are we?

No. But as time goes on and we're able to do more of this kind of preventive gene therapy, you can probably see the rationale for interventions on that scale should we, for example, develop an effective gene therapy protocol aimed at treating hypercholesterolemia. That's a fairly common genetic disease, and the people it affects have high rates of heart disease because they have way too much cholesterol built up in their bloodstream. So, let's say a gene therapy approach has been developed that gives their blood cells an enhanced ability to clean cholesterol out of the bloodstream. Well, if it works for these patients to compensate for their high cholesterol, then what about in me? Why wouldn't I want to prevent the accumulation of cholesterol in my bloodstream? That way, I'd be able to enjoy all the fatty foods I wanted.

Moreover, from a public policy perspective, wouldn't society want you to have that therapy if it meant reducing the potential for you occupying a hospital bed for much of the rest of your life?

Sure. The thrust of public policy in recent years has been in the direction of preventive care, so this would fit right in with that. But if we go very far down that path, we begin to make significant changes in the human form and function that look an awful lot like the sort of improvements and enhancements we've been worrying about. Because along with that comes all the problematic public policy choices of who gets access to these prophylactic enhancements and who doesn't.

Going back to the vaccination notion, let's say we find some way to treat HIV effectively. Given what's happening in South Africa today, would it not be better to administer that treatment via widespread germline therapy instead of being faced with the need to vaccinate every generation from here to eternity?

That's right That's the argument for attempting to develop germline interventions. It's much better to do it once and fix the problem for the whole family line.

But, you know, I'm not sure we've quite nailed this issue yet of how to distinguish medically necessary germline therapies from purely optional enhancement interventions. That still seems rather murky to me.

Well, clearly the distinction lies somewhere in this preventative zone we're discussing. I mean, let's say we've come up with an intervention that enhances cognition and memory and so can serve as a prophylactic against Alzheimer's disease. How could we stand in the way of the widespread use of something like that? Even if we knew it was being used "off label," as it were, by students to increase their performance in the classroom? And that's the route by which virtually all enhancement interventions will come into society. They'll first be introduced as interventions designed to treat disease. The RAC [the National Institutes of Health's Recombinant DNA Advisory Committee] is in no danger of having to face the enhancement issue head-on because it will never review a protocol labeled as an enhancement intervention per se. Those applications will always be couched as treatments for some serious disease. So if we're going to police enhancements—if we're really going to try to hold that line—it simply can't be done at the level of basic research, because there'll always be legitimate justifications for just about any sort of treatment. No, if we're going to police this, it's going to have to be at the level of the user or the physician.

I'm not sure which of the two would be trickier.

Both are going to be difficult. But chances are the medical community will be easier to police because you can at least appeal to their sense of professional autonomy and integrity.

You can also threaten to take away their license to practice.

Right. But with parents and individuals, we're in much the same boat as we are with athletes. That is, you don't want to end up inadvertently caving in to dubious social pressures. For example, let's just say society is prejudiced against very short people, and that my wish is that I could do something to erase that prejudice. But, of course, I can't. And, meanwhile, I certainly want to give my kids every advantage I can, so if there's something I can do that promises to make my children taller, I'm likely to be interested—even though that would only end up feeding into the very problem I find so offensive.

It's this problem of complicity that's so incredibly hard to police because, on the face of it, parents' motivations are often perfectly understandable. Their first obligations are clearly to their own offspring, and if that ends up adding a brick to the wall of some social injustice...well, that's beyond the scope of their responsibility. So this is all somewhat akin to the discussion that used to go on in the African-American community about the ethics of passing for white—using skin lighteners or hair straighteners or anything of that sort in an attempt to look more white. One point of view is that measures such as that simply feed racism and should be discouraged as a consequence.

But, by and large, most people aren't looking to martyr themselves for social justice. They just want a nicer house, a bigger car, a better job.

Exactly. And who can blame them? So that will become society's challenge—to police users by influencing them through consciousness raising, education and other soft measures. Basically, that means solving the problem at the social level rather than at the individual one. And what that probably means is that, ultimately, in much the same way that we currently protect people with disabilities from discrimination, it may someday be important to develop comparable protections for people who either choose not to jump on the enhancement bandwagon or simply can't afford to.

So, in effect, we can pretty much plan on the playing field getting tilted. But if that happens, will we still even by playing the same game anymore?

Right. And we already see examples of exactly what you're talking about in sports where, in addition to the American Power Lifting Association, we now also have the American Drugfree Power Lifting Association. But whereas in sport, you can arbitrarily change the rules of the game, it's much more difficult to accomplish that in the world of social practices, where people compete for jobs, spouses and pretty much everything else.

Even within the athletic realm, to the degree that sports becomes essentially a test of "who's got the better biotech sponsor?", does athletic competition really have any meaning any longer?

Precisely. And I think that's the very philosophical problem that Koss and other athletes are beginning to point out. Just what human excellences are we supposed to be celebrating here?

Stealth perhaps?

Yes. Very good. And drug tolerance.

But if the short fellow who's deeply pained by his lack of stature truly and desperately wants an added jolt of human growth hormone—all risks aside—what business is it of anybody else? Where's the ethical quandary in that?

There hardly is one for the individual.

Even if he's playing into a social stereotype?

Right. That's why if we're going to try to address that problem, we're going to have to do it at a societal level instead of trying to police the end users.

So it's really the Prohibition issue all over again, isn't it?

That's right. It would just be a different form of Prohibition, and we'd probably be just about as effective in policing it.

And yet, as with drugs and alcohol, there also are real dangers associated with gene therapy. I mean, even assuming a virtually unlimited list of relatively safe enhancements, do we have the wisdom to make intelligent choices? That is, are we old enough yet to start playing with the power tools?

I think that's a very good question. There's plenty of evidence that suggests we're not old enough yet. One of my major concerns has to do with how genetic engineering might be used to either reinforce or destabilize the various racial and social categories already used to discriminate between people.

Are you alluding to the use of eugenics?

Yes, in a way—but also to scientific racism in a much broader sense. The attempt to use DNA and genetic markers to widen the social cracks we've driven between ourselves pains me deeply. On the one hand, the population geneticists say, "Don't worry, all the genomic evidence suggests that what we see as races and ethnicities and peoples are much harder to distinguish at the genetic level and that evidence will actually serve to undermine those social constructs." But that's not what's happening because so much of the research is itself structured in terms of those very constructs.

And, you know, I just don't hear racists making much reference to the Human Genome Project. The fact that all races look pretty much the same at the microbiological level is just one of those realities that doesn't seem to be an operative part of the debate.

Exactly. It's so nice that the population geneticists are impressed, but what about those other folks we really need to worry about?

And, in any event, racists have staunchly refused to be confused by the facts right along.

On the other hand, there are subtler forms of racism or social labeling that could be undone by genetics. I'm thinking here of the ways in which genetic research might serve to either confirm or debunk people's origin stories. So one test of our social maturity might be: Are we mature enough yet to really be able to handle knowledge of where we came from? We might find out we all have much more in common than we really want to admit.

That would be wonderful. But, even putting all those racial prejudices aside, is there any reason to believe people are wise or sophisticated enough to make intelligent genetic choices?

Or will those choices just end up being swayed by advertising as usual—with generations of parents going through genetic fads and fashions in much the same way we go through kids' names from generation to generation? Now that's a sobering thought. We could end up with a whole slew of little Brittany Spears types.

Sadly, that seems less a possibility than a probability, doesn't it?

Yes, I think so. Proponents for genetic engineering make the argument that it will encourage human diversity because we'll be able to let a thousand flowers bloom and people will go off in all kinds of interesting directions, each according to his or her own values. But I think we're about as likely to do that with genetics as with any of our other resources.

The law of unintended consequences certainly has to be considered here as well. For example, it's easy to imagine that a man who wishes to enhance his artistic side may instead find himself getting more in touch with his inner schizophrenic. And who should be held to account for that? To what degree should medical professionals be responsible for saving people from their own ill-advised impulses?

Well, they have a lot of responsibility. I think that has to be part of the process of producing safe and effective interventions. Just as we worry about the side effects of any therapeutic drug, we also need to worry about the possible downside of any genetic intervention. It might be, as you suggest, that we find the genes we've tampered with are involved in many more biological processes than just the one we were interested in. Or it might mean that a positive change in one place creates problems in other places. So unforeseen consequences will always be a major consideration. And that means part of the challenge of research in this area must always be to come up with clever ways to anticipate the unanticipated.

As to the germline enhancements at the heart of the so-called "designer baby" controversy, might parents be deceiving themselves when they go looking for genetic silver bullets? After all, it's said that in the horse racing game —where bloodlines have always mattered—Secretariat looked to be muscle-bound and Seabiscuit (the legendary racehorse of the '30s) looked more like a cow pony. They were hardly the paragons of textbook perfection that horse breeders typically look for, and yet both horses achieved a level of greatness that may never be equaled again.

I think the first generation of designer babies will take a lot of wind out of the sails because people will see just how unpredictable the process is.

Are we talking Franken-babies here?

No—probably just normal kids that don't end up developing the special traits in just the way that mom and dad had hoped. In some ways, I can't wait for the first clone of an adult because I'm sure that will be a kid who goes out of his way to be as different as possible from his adult source.

I assume that first wave is likely to include some celebrity genetic material.

No doubt. We already have experience with the Nobel Laureate Sperm Bank, which got a lot of attention a couple of decades ago when it was first set up. You'd think we'd be hearing now about a whole new generation of geniuses, but somehow there's not much talk about the Nobel Laureate Sperm Bank anymore.

As a rule, do most people even have the ability to distinguish good traits from bad? That is, assuming that I can plausibly make the argument that Stephen Hawking brings at least as much value to the world as Michael Jordan does, how good are the chances that parents would choose for their children the sort of physical challenges Dr. Hawking has had to face? I ask that because Stephen Hawking himself has said his disease is not only a big part of who he is, but that it has also contributed significantly to his achievement and his success. By editing out impediments, might we in fact be doing our progeny a disservice?

Possibly. That's one of the things people with disabilities have often pointed out—that their disabilities bring them other gifts that allow them to contribute to the larger society in different ways. From the prospective parents' point of view, are they likely to opt to avoid the known disadvantages that come with a congenital disability, or will they be content to hope for an unpredictable positive turn? I think it's likely most people will make the safe decision, which probably suggests we're at risk of losing some of these special contributions.

By infringing on the natural diversity of humanity, aren't we in danger of reviving eugenics, the ideal of breeding a master race made up of perfect individuals?

It would take an amazingly successful advertising firm to sell the entire species on one particular model. If that was the case, we'd have eugenics by advertiser. For the foreseeable future, though, I think that human genetic diversity is not in great danger. Also, don't forget that there will still be plenty of people going about reproduction in the old-fashioned way. In the distant future, it might be a different story but then there'll probably be other considerations to weigh as well. Maybe we'll be flung amongst the planets by that time.

Still, if we end up sliding down the slippery path of eugenics, don't we lose some of what makes us human in the process?

No, I think our humanity is capable of accommodating all manner of atrocities. Our humanity actually isn't all that special is what I guess I'm trying to say. It would be perfectly human of us to grind ourselves into extinction. In fact, there's a special issue of a journal I subscribe to called Politics in the Life Sciences which had a symposium issue on "Is Humanity Destined to Self-Destruct?" It was a bit gloomy but that's why some of these theologians are somewhat enthusiastic about germline gene therapy. In effect, they see man's place in the universe not just as God's subjects but also as God's hands—sort of elevating us to co-creator status. So they're quite happy to talk about our trans-human future—consciously engineering ourselves out of our humanity and into whatever our next state of being is supposed to be.

Go forth and propagate new species.

Yes! Exactly.

In that same vein, Princeton molecular biologist Lee Silver, in his book "Remaking Eden: How Cloning and Beyond Will Change the Human Family," foresees a future society segregated between the "GenRich" and the "Naturals." The GenRich, blessed with certain synthetic genes, would control society and most of its wealth. The Naturals, meanwhile, would supply the labor. Is this all pure SciFi, or is Silver really onto something here?

I think it's mostly science fiction. The history of social stratification has shown that an aristocracy has a hard time maintaining a permanent sort of control—the kind you'd need in order to get a biological subspecies developed. Inevitably, the revolution comes. And as the have-nots become the haves, they gain access to the same genetic advantages. Ultimately, the playing field—if not entirely evened—at least gets very muddied. The book I always think of when I'm talking about this is the Dr. Seuss book about the creatures that have stars on their bellies: "The Star-Bellied Sneetches." The sneetches that don't have any stars on theirs make up the underclass. But a man comes along with a star machine, and soon all the unstarred sneetches manage to buy stars for their bellies, which understandably makes all the starred ones who'd been part of the aristocracy quite concerned. So they go to the man and he tells them that, yes, he does happen to have a star-removing system as well. Pretty soon, there's a constant flow of sneetches through both machines.

Well, there you have it then. It's also been said that the best antidote to the bias and injustice of eugenics would be a good, powerful dose of democracy. Is that how you see it?

That's right. If we're talking about democracy in the sense of public awareness and discussion of the techniques that are coming along, I wholeheartedly agree. That's the very way in which we'll be able to develop reasonable policies. And that's the whole philosophy behind having something like the Recombinant DNA Advisory Committee, whose job it is to review newly developed gene transfer protocols. Of course, that's the reason we're so concerned about inadvertent ventures into germline experimentation. Whether or not the incident in question [at St. Barnabas in New Jersey] was a serious form of germline gene therapy, the fact is that it was never discussed in public. And we need to have those public dialogues if we want this whole business of genetic science to progress in a fair way.

Why would there be any resistance to that? Because it's bothersome, it gets underfoot, it slows things down?

Sure, it slows things down. And from the researchers' point of view, the problem with that is that it's not necessarily in the best interests of the people they're trying to help. In this case, the researchers were helping clients at an infertility clinic who saw this technique as a way of improving their chances of having a child.

So the scientists weren't just angling to write a paper, to gain notoriety, to strut their stuff in front of their peers?

Let's be charitable.

What is it about public discussion that's so powerful? That is, what value do we as a society gain from subjecting reprogenetic technologies and policies to public scrutiny?

We gain a couple of things, actually. The most obvious is simply a form of societal informed consent. People will learn what's coming and we can use the policy-making process to decide whether we want to go down that road or not. Another benefit is that the scientific community, by engaging the public, can learn about what lies ahead for them should they manage to bring the technology in question to fruition. That's to say that in the course of a public discussion, issues come up—risks and wrinkles you never would have thought of otherwise. Also, researchers can learn about some additional applications of the technologies that may end up informing the way they do their work. So, for example, a relatively innocent proposal to study human genetic variation by sampling the world's isolated indigenous populations and comparing their DNA markers was kind of blown wide open by a public discussion that brought to light many of the issues such a research program could raise for those indigenous populations. And many of those issues took the scientists completely by surprise. One of the objections raised, for example, was that this was just the sort of information the oppressors were looking for—a good genetic marker that would serve to set the indigenous people apart, allowing eradication programs to proceed.

This would be the star they'd have to wear?


Even without obtaining valuable feedback like that, though, aren't we still justified in insisting upon dialogue, if only because these capabilities are ones that could easily have profound implications for all of us?

That's right. Science doesn't happen in a vacuum anymore. So in a way, we're all part of the scientific process.

As a practical matter, assuming proven enhancement interventions actually become available, is there any public policy that could possibly be effective in precluding their use?

We've been looking at that and it's awfully hard to imagine a policy that wouldn't be so draconian as to be unpalatable, at least here in America. Because basically what you'd have to do is treat these manipulations in the same way we treat other illegal substances and illegal interventions—which is to say by criminalizing them. And it's hard to imagine doing that for interventions that are ostensibly aimed at simple improvements since, on the whole, we tend to favor people trying to better themselves.

It's questionable even in the most authoritarian society whether access can be effectively precluded to something people really want. Because we can assume that people of means will always have access to enhancement interventions—whether somatic or germline—no matter what the laws say. Can we also assume, then, that restrictions on gene therapy can thus only serve to further stack the deck against the already disadvantaged?

Oh, that's an interesting point. That would be a consideration. I'd say there are three possible approaches to the problem. One would be to say: further restrictions are just going to exacerbate the differences, so let's just make some minimal level of enhancements available to all. That would be the Egalitarian Approach. Do away with the difference that wealth makes by making this a public good. Another approach would be to take a classically liberal model and say: "Well, it's okay that the rich will have access to these interventions because we can expect there to be some trickle-down benefits." If we can help to ensure that trickle-down effect by, for example, packaging a musical ability gene or a financial acuity gene with an altruism gene, then perhaps we should do so. So the idea would be to regulate the product, limiting customers only to certain packages. They would get some socially useful attribute bundled along with whichever one they find personally interesting. I tend to think of that as Genetic Liberalism. Then another possibility would be what I call Genetic Maoism—which would be to bundle desirable traits that confer some sort of advantage with some kind of compensating disadvantage. So yes, you'd be able to get the intelligence gene, but it would come along with a high propensity for depression. So take your pick and make your choice. None of the three policy approaches I've just outlined have any serious proponents that I know of. They might provide the basis for a good science fiction novel, however.

About the Interviewer

Mark Compton monitors trends in information technology and biotechnology from a comfortable perch midway between the Silicon Valley and Oregon's Silicon Forest.

Online Survey Results on Gene Doping

Following the Geneforum/PSU Public Forum on Gene Doping, geneforum posted an online survey on its Web site. Below are the results from that survey.

See results

Oregon State-Wide Telephone Survey Results on Gene Doping

In August 2004, Davis, Hibbits & McCaig, Inc. conducted a state-wide telephone survey of 500 Oregonians on the topic of gene doping. Below are the results from the survey.

See results

Researchers look to head off gene doping before it starts

Monday, February 07, 2005

Rachel Bachman

(February 7) For decades, doping in sports has been a mismatched race: the drug-taking athletes and their agents sprinting in front, sports' governing bodies and their tests lagging behind.

The new threat to competitive sports is not a drug. It does not leave evidence in the bloodstream or urine. Yet it has created super-muscular mice in lab tests and has athletes and coaches salivating over its potential.

It is called gene doping, and it could offer athletes an undetectable way to get ahead.

The difference this time around is that almost no athletes, if any, have tried the technique. For once, anti-doping advocates seem to have a head start on the cheats.

Today, a few leading researchers will convene at the World Anti-Doping Agency in Montreal to attack the issue of testing for gene doping, the practice of introducing specific genes into the body to stimulate muscle growth, metabolism or endurance.

On Friday morning, Portland State will play host to a panel discussion on human genetic enhancement featuring one of the world's leading authorities on the subject, Dr. Theodore Friedmann. Discussion organizer, Greg Fowler, a geneticist at Oregon Health & Science University and Founder and Executive Director of Geneforum ( said he hopes the discussion will further a national conversation on the implications of genetic manipulation for athletic gain.

Friedmann, director of the Program in Gene Therapy at UC San Diego, said society already has accepted treatments such as mood-lifting drugs and plastic surgery.

"So the question of course is: If you can improve a human being's performance in many ways with drugs, why not with genes?" Friedmann said. "What is the scientific or ethical or policy difference between the two? That, a lot of people are struggling with." What is gene doping?

Gene transfer involves the delivery of synthetic genes into human cells, where they become indistinguishable from a person's DNA. Once installed, the genes can slow muscle atrophy, speed up the body's metabolism or augment the muscles helpful for certain activities. One study, for instance, produced genetically altered "marathon mice" able to run an hour longer than unmodified mice.

Studies of gene transfer, focusing on its therapeutic potential against diabetes, muscular dystrophy and other genetically based ailments, have been around for decades. But in recent years, they have produced dramatic successes.

Those results have tantalized athletes, who always have thirsted for the next big advantage.

H. Lee Sweeney, a physiologist at the University of Pennsylvania, and his partners treated mice with a synthetic gene that made their muscles grow 15 percent to 30 percent larger than normal, even though the mice were sedentary. No sooner had Sweeney announced his study results than he was fielding phone calls from athletes and coaches, he told the Los Angeles Times.

One high school football coach asked whether Sweeney could inject his players with the gene that had bulked up the mice. The risks

Human trials in gene therapy have produced mixed results. In 1999, 18-year-old Jesse Gelsinger died suddenly after undergoing experimental gene therapy for a metabolic disorder. Although gene therapy successfully has treated children with the immune-system failure called "bubble-boy disease," it also has misfired, causing leukemia.

The danger is that unlike drug therapies, it is difficult to turn off gene therapy. Once the genes are in the body, they are there to stay.

"That really again emphasizes the fact that you don't use these tools frivolously, for anything other than serious disease, and not for tampering with enhancement kinds of goals," Friedmann said. The challenges

Gene doping is on WADA's list of prohibited substances and methods yet it remains an irresistible idea to many athletes.

"Another problem is that the money required to do such work, set up a laboratory and go in this direction, is not enormous and by athletic standards is absolute chicken feed," Friedmann said. "So if I were really a rogue and intent on doing this and evading all the relevant oversight mechanisms, I could do sort of a ham-fisted, bad job of it.

"But to do it well and rigorously and carefully and safely in athletes, I could not."

Another scheduled panelist for the PSU forum, Maxwell Mehlman, said the threat of gene doping is another example of sports' losing battle against humans' attempts to gain an athletic advantage. Mehlman, a professor of biomedical ethics at Case Western Reserve University in Cleveland, said catching doping athletes grows more difficult with each leap in technology.

"At some point, I think we really have to rethink, 'Is it worth it?' " Mehlman said. "Ultimately, is it worth it to continue to have the pleasure of watching people target-practice with muzzleloaders? Or is it time to just say, 'Well, it's just too hard because we can't tell the difference between muzzleloaders and automatic machine guns anymore without a great deal of too much effort. So we'll just have shooting.' " The future

Lance Deal, a 1996 Olympic silver medalist in the hammer throw and an assistant track and field coach at Oregon, said he considers athletes manipulating themselves to be cheating.

"If they decided to find something that would cure my defect in my ear so I could hear on one side . . . yeah. Sure," Deal said. "But that's so I can hear my daughter. That's not so I can get a silver medal in the Olympics."

Yet as Sweeney wrote in his story in the July issue of Scientific American, the 2004 Athens games might have been the last Olympic games without genetically enhanced athletes.

Friedmann, the leader of WADA's gene doping panel, said he is confident that effective, manageable testing methods can be found. But when asked for the worst-case scenario for gene doping in sports, Friedmann invoked the scandal involving the Bay Area Laboratory Co-Operative, implicated in the doping of numerous high-profile athletes.

Gene doping, Friedmann said, "is a genetic equivalent of BALCO. It can happen."


Rachel Bachman: 503-221-4373;

Copyright 2005 Oregon Live. All Rights Reserved.

Results from Oregon College Athlete Gene Doping Survey

In 2005, Geneforum approached athletic directors at Portland State University and University of Oregon to ask whether their athletes would be willing to participate in an online survey on the subject of gene doping. Below are summary results from the 115 athletes that completed the survey.

See results

Summary of Public Values Raised During 2005 Public Forum on Gene Doping

Following is a summary (by category) of the issues (public values) raised during the open discussion of ~160 guests which followed the (factual) remarks of panelists Ted Friedmann, M.D. – Director, Program in Gene Therapy, UCSD; Mari Holden – 2000 Olympic Silver Medalist in Cycling; Max Mehlman, J.D.-- Director, Law-Medicine Center and Professor of Biomedical Ethics, Case Western Reserve University.

Read report

Survey Results from 2005 Public Forum on Gene Doping

Below are survey results from the Feb. 11, 2005 public forum co-sponsored by Geneforum and Portland State University. Following presentations from 4 panelists, an audience of ~160 was asked to answer the following questionnaire and then participate in an open discussion.

See results

Genetic Privacy Guide

The Genetic Privacy guide is integrated with the Genetizen – a blog authored by experts in the field of bioethics, genetics, and healthcare who comment on and analyze current developments in the field.

A key feature of this guide is its peer-review capability i.e., the ability for visitors to contribute and interact with the content. Comments are enabled at the bottom of every page. However, if you'd like to submit your own story click Your Stories on the menu bar.

Action Alert Tell the Senate to take action on GINA!

Action Alert
Tell the Senate to take action on GINA NOW!

The Genetic Information Nondiscrimination Act, or GINA, (S.358) is on the verge of passing after 12 long years! The House bill (H.R.493) passed 420-3 on April 25 and the Senate bill has been reported out of committee. We just need the full Senate to vote on the bill to get it to the President’s desk!

Tell your senators to push for GINA to come to the floor for a vote! A list of senators and their contact information is below. Please take a few minutes to tailor the sample letter below on your letterhead and fax it to the Senate (or call, or email them - Feel free to insert personal reasons for your support of the bill into the text.

There is power in numbers! Tell your friends, family, coworkers, and other members of your organization to take action now. We must make a big impact on this issue, and if every senator is contacted multiple times, we can make it happen! [Coalition for Genetic Fairness can also hand deliver a big pile of letters if you want to also fax us a copy: 202.966.8553]

Sample Letter

Dear Senator ____,

I support the Genetic Information Nondiscrimination Act, or GINA, (S.358). I am writing to ask for your support for this legislation to come to the floor and pass.

It is astounding that this bill, which the Senate has passed unanimously in the 108th and 109th Congresses, has not passed in the 110th yet. The House passed it 420-3 on April 25, 2007. This bill protects all Americans from the misuse of genetic information in employment and health insurance decisions. With these protections in place, Americans will be able to use genetics in medicine without fear of misuse of their genetic information.

More than 140 national patient groups, academic institutions, research centers, companies, women’s organizations, labor organizations, and the millions of Americans endorse this legislation. We represent every sector of society in this nation, and we urge passage of GINA.

Thank you for your time.


List of Senators

Senator Phone Fax
Daniel Akaka (D-HI) 202.224.6361 202.224.2126
Lamar Alexander (R-TN) 202.224.4944 202.228.3398
Wayne Allard (R-CO) 202.224.5941 202.224.6471
Max Baucus (D-MT) 202.224.2651 202.224.0515
Evan Bayh (D-IN) 202.224.5623 202.228.1377
Robert Bennett (R-UT) 202.224.5444 202.228.1168
Joseph Biden (D-DE) 202.224.5042 202.224.0139
Jeff Bingaman (D-NM) 202.224.5521 202.224.2852
Christopher Bond (R-MO) 202.224.5721 202.224.8149
Barbara Boxer (D-CA) 202.224.3553 202.956.6701
Sherrod Brown (D-OH) 202.224.2315 202.228.6321
Sam Brownback (R-KS) 202.224.6521 202.228.1265
Jim Bunning (R-KY) 202.224.4343 202.228.1373
Richard Burr (R-NC) 202.224.3154 202.228.2981
Robert Byrd (D-WV) 202.224.3954 202.228.0002
Maria Cantwell (D-WA) 202.224.3441 202.228.0514
Benjamin Cardin (D-MD) 202.224.4524 202.224.1651
Thomas Carper (D-DE) 202.224.2441 202.228.2190
Robert Casey (D-PA) 202.224.6324 202.228.0604
Saxby Chambliss (R-GA) 202.224.3521 202.224.0103
Hillary Rodham Clinton (D-NY) 202.224.4451 202.228.0282
Tom Coburn (R-OK) 202.224.5754 202.224.6008
Thad Cochran (R-MS) 202.224.5054 202.224.9450
Norm Coleman (R-MN) 202.224.5641 202.224.1152
Susan Collins (R-ME) 202.224.2523 202.224.2693
Kent Conrad (D-ND) 202.224.2043 202.224.7776
Bob Corker (R-TN) 202.224.3344 202.228.0566
John Cornyn (R-TX) 202.224.2934 202.228.2856
Larry Craig (R-ID) 202.224.2752 202.228.1067
Mike Crapo (R-ID) 202.224.6142 202.228.1375
Jim DeMint (R-SC) 202.224.6121 202.228.5143
Christopher Dodd (D-CT) 202.224.2823 202.224.1083
Elizabeth Dole (R-NC) 202.224.6342 202.224.1100
Pete Domenici (R-NM) 202.224.6621 202.228.3261
Byron Dorgan (D-ND) 202.224.2551 202.224.1193
Richard Durbin (D-IL) 202.224.2152 202.228.0400
John Ensign (R-NV) 202.224.6244 202.228.2193
Michael Enzi (R-WY) 202.224.3424 202.228.0359
Russ Feingold (D-WI) 202.224.5323 202.224.2725
Dianne Feinstein (D-CA) 202.224.3841 202.228.3954
Lindsey Graham (R-SC) 202.224.5972 202.224.3808
Charles Grassley (R-IA) 202.224.3744 202.224.6020
Judd Gregg (R-NH) 202.224.3324 202.224.4952
Chuck Hagel (R-NE) 202.224.4224 202.224.5213
Tom Harkin (D-IA) 202.224.3254 202.224.9369
Orrin Hatch (R-UT) 202.224.5251 202.224.6331
Kay Bailey Hutchison (R-TX) 202.224.5922 202.224.0776
James Inhofe (R-OK) 202.224.4721 202.228.0380
Daniel Inouye (D-HI) 202.224.3934 202.224.6747
Johnny Isakson (R-GA) 202.224.3643 202.228.0724
Tim Johnson (D-SD) 202.224.5842 202.228.5765
Edward Kennedy (D-MA) 202.224.4543 202.224.2417
John Kerry (D-MA) 202.224.2742 202.224.8525
Amy Klobuchar (D-MN) 202.224.3244 202.228.2186
Herbert Kohl (D-WI) 202.224.5653 202.224.9787
Jon Kyl (R-AZ) 202.224.4521 202.224.2207
Mary Landrieu (D-LA) 202.224.5824 202.224.9735
Frank Lautenberg (D-NJ) 202.224.3224 202.228.4054
Patrick Leahy (D-VT) 202.224.4242 202.224.3479
Carl Levin (D-MI) 202.224.6221 202.224.1388
Joseph Lieberman (D-CT) 202.224.4041 202.224.9750
Blanche Lincoln (D-AR) 202.224.4843 202.228.1371
Trent Lott (R-MS) 202.224.6253 202.224.2262
Richard Lugar (R-IN) 202.224.4814 202.228.0360
Mel Martinez (R-FL) 202.224.3041 202.228.5171
John McCain (R-AZ) 202.224.2235 202.228.2862
Claire McCaskill (D-MO) 202.224.6154 202.228.6326
Mitch McConnell (R-KY) 202.224.2541 202.224.2499
Robert Menendez (D-NJ) 202.224.4744 202.228.2197
Barbara Mikulski (D-MD) 202.224.4654 202.224.8858
Lisa Murkowski (R-AK) 202.224.6665 202.224.5301
Patty Murray (D-WA) 202.224.2621 202.224.0238
Ben Nelson (D-NE) 202.224.6551 202.228.0012
Bill Nelson (D-FL) 202.224.5274 202.228.2183
Barack Obama (D-IL) 202.224.2854 202.228.5417
Mark Pryor (D-AR) 202.224.2353 202.228.0908
Jack Reed (D-RI) 202.224.4642 202.224.4680
Harry Reid (D-NV) 202.224.3542 202.224.7327
Pat Roberts (R-KS) 202.224.4774 202.224.3514
John Rockefeller (D-WV) 202.224.6472 202.224.7665
Ken Salazar (D-CO) 202.224.5852 202.228.5036
Bernard Sanders (I-VT) 202.224.5141 202.228.0776
Charles Schumer (D-NY) 202.224.6542 202.228.3027
Jeff Sessions (R-AL) 202.224.4124 202.224.3149
Richard Shelby (R-AL) 202.224.5744 202.224.3416
Gordon Smith (R-OR) 202.224.3753 202.228.3997
Olympia Snowe (R-ME) 202.224.5344 202.224.1946
Arlen Specter (R-PA) 202.224.4254 202.228.1229
Debbie Stabenow (D-MI) 202.224.4822 202.228.0325
Ted Stevens (R-AK) 202.224.3004 202.224.2354
John Sununu (R-NH) 202.224.2841 202.228.4131
Jon Tester (D-MT) 202.224.2644 202.224.8594
Craig Thomas (R-WY) 202.224.6441 202.224.1724
John Thune (R-SD) 202.224.2321 202.228.5429
David Vitter (R-LA) 202.224.4623 202.228.5061
George Voinovich (R-OH) 202.224.3353 202.228.1382
John Warner (R-VA) 202.224.2023 202.224.6295
Jim Webb (D-VA) 202.224.4024 202.228.6363
Sheldon Whitehouse (D-RI) 202.224.2921 202.228.6362
Ron Wyden (D-OR) 202.224.5244 202.228.2717

Arguments against the genetic nondiscrimination bills

A new bill recently introduced in the U.S. House of Representatives would prohibit employers from making hiring/firing and promotional decisions based on genetic information showing a worker may contract a disease in the future, and would also prevent health plans from denying coverage or charging higher premiums using those same genetic tea leaves. (United Press International in today's online newspaper)

The article, in addition to providing reasons for the bill, supplies a good summary of the reasons some legislators are against the bill known as GINA (Genetic Information Nondiscrimination Act). Here are some of the statements in Laura Gilchrist's article, Analysis: Genes and job discrimination.

Some may think the bill is not strong enough:

The proposed legislation, co-sponsored by Reps. Louise Slaughter, D-N.Y., and Judy Biggert, R-Ill., would be limited to cases where an employer intentionally seeks out genetic information about a worker and misuses that information. The bill even carves out a so-called "water-cooler" exception to protect employers from liability under the law if they come across the sensitive data inadvertently.

The bill also requires that a worker first take his case to the Equal Employment Opportunity Commission before going to court, and damages caps are built into the law; for example, companies with fewer than 100 workers would pay no more than $50,000 in damages, while firms with more than 500 workers would have a damages limit of $300,000.

Others are concerned that the bill "recommends" genetic testing, while prohibiting discrimination based on test results.

"There is a clash between people who want to save money and those who say (a genetic-information non-discrimination law) will cause frivolous lawsuits," Biggert said.

Other policy experts said the bill should still allow companies to collect such data if they can show the genetic information is relevant to a specific job or to worker safety, and that the bill should make clear that it is not a ticket for workers to sue their employers for failing to provide coverage for certain medical conditions.

Speaking in opposition to the bill,

Mohit Gose, spokesman for the trade group America's Health Insurance Plans, told United Press International that his group generally supports the new legislation's goal of prohibiting genetic information-based discrimination in coverage and premium policies, but said insurers should still be able to use the information for "improving the quality of healthcare being provided."

"We continue to work with the House and the Senate to ensure that (its passage) has no inadvertent consequences that could impede (health) quality improvement activities," he said.

Others argue that genetic testing is so new that discrimination isn't occurring yet and we're wasting time passing unneeded legislation.

"Trying to stay ahead of the curve through legislation is a recipe for unintended consequences," Jack Calfee, resident scholar with the free market-oriented think tank American Enterprise Institute, told UPI. "These bans have a way of expanding through legislation and regulatory proceedings and become much broader than contemplated when they were written," he said. "Let's see if it's a problem for employers and employees before we legislate."

Committee Ranking Member Rep. John Kline, R-Minn., also noted the apparent lack of evidence as yet that genetic data are being misused by companies and insurers. "We don't necessarily need a broad, federal mandate," he said. "If legislation is needed -- and the jury is still out -- we should target the solution to the problem, rather than going after a mosquito with a machine gun."

While there have been few discrimination cases stemming from the testing so far, employees of Burlington Northern Railroad did bring a successful case against their former company.

Geneforum's policy is to address issues in their early stages, before great damage has occurred. People in a number of surveys have indicated that they value their genetic privacy. I think this value, and the right to work and to have health insurance regardless regardless of genetic "predisposition", should be addressed while genetic testing is still in its infancy.

Marie Godfrey, PhD



Could you face genetic discrimination?

Tomorrow (January 30), at 10:30 am EST, the House Subcommittee on Health, Employment, Labor, and Pensions will hold a hearing on The Genetic Information and Nondiscrimination Act (GINA). If your Representative is not yet a sponsor of the bill--as mine is not--you may want to join me and encourage that person to sign on.

The list of sponsors can be found at This particular bill is even supported by President Bush. Details are available at

You can call (best option) or send an e-mail to your Representative. The time it takes is well worth it. Here are some details of interest--taken directly from the information provided by the Coalition for Genetic Fairness:

Why We Need GINA

1) We are all affected.

  • Each of us carries a handful of genetic anomalies. Some of those might cause us to be affected by genetic conditions. Some of those will not affect our health, but may affect the health of our children.
  • Currently, 1200 genetic tests exist which can diagnose thousands of health conditions. This number has grown from just 100 genetic tests 10 years ago. With more genetic tests in the pipeline, increased genetic information will become accessible through testing.
  • Genetic information is invaluable. It provides a key to our makeup that we can use to proactively manage our health. However, this same information may also be misused and put us at risk for genetic discrimination. Cases of genetic discrimination have already been documented in the United States, and without laws to address the issue adequately, such cases will likely continue.
  • We need legal protection so that all Americans are free to put their health concerns first without fear of discrimination.

2) Current laws do not adequately protect us from genetic discrimination.

  • The current patchwork of state laws leaves individuals vulnerable. A few states have strict protections against genetic discrimination, but most states have little to no protection. This leaves individuals with little knowledge about how much their genetic information is protected from state to state. In addition, companies who deal in any kind of health information are left with no national framework to guide how they handle genetic test results and genetic information privacy.
  • Genetic information is not properly covered under HIPAA privacy guidelines. Current HIPAA guidelines do not prohibit insurers from requiring genetic testing or from denying coverage based on genetic information. Genetic information is becoming increasingly more ingrained in medicine, and as such, will serve to complicate privacy law if steps are not taken now to close gaps in policy.

3) We all lose under current guidelines.

  • Fear of misuse of genetic information is preventing people from getting genetic tests done. Refusal to utilize effective genetic tests hurts individuals, researchers, doctors, and companies. Individuals’ lack of testing denies them important medical information that they could otherwise use to proactively manage their health. The information garnered by genetic tests also helps doctors to prescribe treatments and lifestyle changes with increased success. The same information can be used by researchers to effectively create targeted drugs and develop treatments. In addition, companies developing these important tests cannot recoup research costs, and therefore, are unable to invest in further development.
  • Fear of discrimination is also causing a large number of people to opt out of clinical trials. Fewer participants in clinical trials leads to slower development of treatments and beneficial drugs. With the exponential increase in genetic tests being developed, lack of participation in trials will most likely prove to be a severe limiting factor. In addition, clinical trials provide patients in late stages of disease with access to breakthrough treatments that would normally be unavailable.

4) We can all benefit from protections offered in the Genetic Information Nondiscrimination Act.

The Genetic Information Nondiscrimination Act protects all Americans by:
  • Prohibiting insurers in both the group and individual health insurance market from 1) “requesting or requiring” genetic testing of an individual or his family or 2) using genetic information to determine eligibility or establish premiums.
  • Prohibiting employers, including employment agencies and labor organizations, from 1) “requesting or requiring” genetic testing of an individual or his family or 2) using genetic information to make hiring or promotional decisions, or when determining eligibility for training programs.
Americans support the Genetic Information Nondiscrimination Act. An overwhelming majority of Americans (85%) believe that if someone has a genetic test, their employer should not have the right to know the results. Republicans, Democrats, and individuals from all racial and ethnic groups, religions, and income and education levels share this opinion. [Survey conducted in 2002 by the Genetics and Public Policy Center, Johns Hopkins University.]

Marie Godfrey, PhD

Faces of Genetic Discrimination

See the attached article (28 pages long) for stories on people who have faced genetic discrimination.

Marie Godfrey, PhD

Genetic discrimination bill active again

The following comes from a bulletin I received a few minutes ago from the Genetic Alliance. If you are concerned about the potential effects of genetic testing--whether for privacy or insurance coverage--you will want to check this out and make your opinion known.

Genetic Information Nondiscrimination Act Introduced in House!

The Genetic Information Nondiscrimination Act (GINA) was introduced in the House of Representatives as H.R. 493 on January 16. Over 140 original cosponsors joined sponsors Rep. Slaughter (NY-28), Rep. Biggert (IL-13), Rep. Eshoo (CA-14), and Rep. Walden (OR-2) in supporting GINA's introduction. House and Senate bill sponsors will build stronger support in their chambers with your grassroots help. Genetic Alliance is collecting letters of support from our community and to present GINA's House and Senate sponsors. You can simply customize a template letter and send it to us to deliver with all of the other letters. Please join us in this effort and take a few minutes to make your voice heard!

Click here to learn more about the GINA letter drive

Click here to help build cosponsors for GINA

Click here to learn more about GINA

Join the Genetic Alliance push if you are in favor of the bill, or write a letter of your own. Equally important: if you have doubts, questions, reservations about the substance of the bill (you'll have to read it of course), say or do something. We at geneforum bring you information like this so that you can voice YOUR opinions. If you want more information on genetic discrimination, ask a question here, or consult other Genetizen blogs about the subject.

Marie Godfrey, PhD


GINA passes in the House

Today, the Genetic Information Nondiscrimination Act (H.R.493) passed the House of Representatives. Representative Slaughter (D-NY) and Representative Biggert (R-IL), GINA’s lead sponsors, spoke to the need for protections against genetic discrimination and thanked the House chairs of the committees of jurisdiction for their work to move the bill. Members of the House from both sides of the aisle stood in support of GINA and called for a favorable vote on the legislation. The bill was passed with a 420-3 vote under the suspension of the rules.

Thanks for all your help.

Marie Godfrey, PhD

Senate committee to review genetic nondiscrimination

Tomorrow (January 31) at 10 am EST, the Senate committee on Health, Education, Labor, and Pensions will "mark-up" the Senate version of the genetic nondiscrimination bill discussed today by a House committee. Word from the rumor mill is that the meeting will be open to the public. I don't know whether it will be broadcast on t.v.

You can check out the text of each of the bills by going to and searching for H. R. 493 for the House and S. 358 for the Senate.

I wrote to my Utah Representative, Rob Bishop, about the bill in the House and he called me tonight with some questions. I hope my answers were helpful to him.

Marie Godfrey, PhD

Ways to protect people from discrimination based on genetic information

Michael Hill, in a recently released story in the Baltimore Sun, provides a series of questions and answers about genetic discrimination. The answers come from Karen Rothenberg, dean of the University of Maryland's School of Law and founding director of the school's Law and Health Care program. Last week, she testified in Washington before a House subcommittee considering a bill designed to protect workers from discrimination by employers and insurers on the basis of genetic information.

Here are some of the questions and her answers:

If potential discrimination has been an issue for such a long time, why is it just getting written into a federal law?

Early on, I was part of a series of working groups that put together a framework for a legislative approach to the issue because I had researched early state legislative approaches. When it appeared that we were not going to get it through initially on the federal level, we adopted a two-stage approach -- state-by-state efforts and continuing work on the federal level -- going back as early as 1995. Maryland is one of a number of states that took action on this, though it is impossible for any single state to cover all the issues.
In Washington, on and off, we have made some progress. We would get something watered down through the Senate and not through the House. It looks possible that this year something could happen.

As a matter of social policy, this issue is extremely important. What we are saying is that we should not allow discrimination because somebody gets genetic information that tells them that something in their genetic code says they have a predisposition to heart disease or cancer or whatever.

I think what we as a society have to say is, "Look, we all have a number of mutations in our genetic makeup that predispose us to diseases or conditions."

The people and the genetic predictors that get singled out are the ones that researchers happen to have looked at. . . We should not discriminate against somebody because we have identified some predictor in their genetic code. That is important in every state, and it is important nationwide.

Why would people want to get genetic information about themselves if they are worried about discrimination? Doesn't testing usually just tell you something you can't do anything about?

Remember, there is a wide range of genetic information. Some can paralyze you and there is nothing you can do about it. But others can mean you can make a change in your lifestyle or medical choices.
Let's say a disease, colon cancer, has already been diagnosed, then, for example, a genetic test might say something about what sort of treatment you should get, what kind of drugs, whether it should be chemotherapy or radiation or radical surgery. At that point, you may make a risk/benefit analysis, weighing privacy and discrimination concerns against medical decisions.

What you have to remember is that most people who get colon cancer do not have a genetic explanation, at least at this point. Then there are people in the same family, and one gets it and the other doesn't. They grew up in same environment, ate the same food, breathed the same air and for some reason one gets sick and the other doesn't. They may or may not have the genetic predisposition. Even if someone does have that predisposition, it interacts with the environment in a way that we do not understand. So it really makes no sense to use these genetic markers for employment or insurance or any other reason like that. Even if we knew for sure, this is a civil rights issue. People should not fear discrimination based on their genetic code.

Then there is the impact on the future of genetic research. People should not be afraid to participate in big clinical trials that can advance our knowledge of dealing with diseases, afraid that the information the researchers find out about them can be used against them. Some people will want their individual results if available, some will not. Again it is a risk/benefit analysis, deciding if the results are of value to them. But what will they do the next time they are filling out a form that asks about medical tests? Does this include genetic information? When you don't get the results, you don't have any of those issues.

My bottom line is that if we as a society choose to invest in this research, it should not be to penalize or hurt people; it should be to empower them.

In the end, can we pass laws to address all of these problems? Is it really possible to legislate such discrimination out of existence?

You can never guarantee legislation will eliminate hate or fear, but we can try. This is particularly important post-9/11 when the government is looking into so many aspects of people's private lives. What I worry about is that your genetic code, as opposed to your race or your gender, is invisible. If you make a claim of discrimination based on race or gender, you are not revealing any secrets. But that might be the case for a healthy person who is claiming discrimination because of some genetic predisposition. So they risk their loss of privacy and, unless they are protected, they have no discrimination claim.
It is one thing, as we have done in many states, to tell insurance companies that they cannot discriminate, cannot refuse to issue policies, based on genetic information. But the fact is that in our society, most insurance comes through employers. So if an employer denies you a job because of what that company knows about your DNA, it is in effect denying you insurance.

And remember, many of these employers are self-insured so they are essentially directly denying you the insurance they underwrite.

One thing you have to realize is that there are ways for employers to get such information that legislation will never deal with. An interviewer doesn't have to ask if you have a lot of breast cancer in your family. Say I call a reference you give me and that reference says, "She's a fantastic worker, such a hard worker that she never missed a beat even over the last few years when three or four members of her family got breast cancer."

There is not going to be anything illegal about that. But try proving discrimination if you don't get the job. It will be difficult.

I don't think any legislation can do all that. But legislation can send a strong message about social policy. People should be respected for who they are, not denigrated because of some difference in their genetic makeup.

The full article is available at


Marie Godfrey, PhD

Everyone wants your DNA--whose is it anyway?

In contrast to Kaiser Permanente's recent acknowledgement that they are planning to use tissues, including DNA, from their patients for unspecified resarch unless individuals opt-out by submitting a letter to them, the Ministry of Health in New Zealand announced today that residents of that country are being asked to comment on proposed guidelines for such unspecified research. In an article, the ministry's chief clinical adviser, Sandy Dawson, stated:

New Zealand already has clear guidelines on the ethical collection, use and disposal of tissues for research which is specified at the time that consent is given. These proposed guidelines provide additional guidance for ethics committees and researchers to cover situations where tissues can be stored and used for to find answers to research questions that arise in future.

According to the article, "human tissue is defined as any material that is, or includes, human cells. It includes all or any part of a body, a foetus or the body of a still-born child, human stem cells, other human cells and blood."

New Zealand research groups are among those who want to bank human tissue for future, unspecified research. Kaiser Permanente, deCODE genetics (Iceland), biobank of the UK, and many other groups are already building or working with their "biobanks". Several days ago you had an invitation to give comment on a US genetic advisory committee proposal for a biobank--at the same time NIH has already begun initial work on such a project. Hmmm, should we wonder whether the branches of our government are not talking to each other?

What's happening? Are the decisions being made for us? Do we have any say in the matter?

Becoming informed--even realizing that these things are happening around us--is a good first step. Reading and commenting on notices for public input are other ways. If you want to read what New Zealand proposes, go to and download a copy of the proposed guidelines.

For the US proposals (for what they're worth), check out the blog entry YOUR comments needed on whether NIH should start a population study on Genes, Environment, and Disease.

Marie Godfrey, PhD

Geneforum Interview with George Annas: Genetic Turf Wars: Whose DNA is it anyway?

An Interview with George J. Annas
Professor & Chair of the Health Law Department
Boston University School of Public Health

by Mark Compton, November 2000

Over the past decade, George Annas has come to be considered one of the nation's foremost experts on genetic privacy. That's largely because in 1995 he was the principal author of a model designed to serve as the basis for federal gene privacy legislation. Although Congress has since remained divided over the issue, the Annas model has been adopted - to greater or lesser degrees - by a number of states that have passed genetic privacy acts of their own.

George J. AnnasThe first state to take action was Oregon. But now Oregon's Genetic Privacy Act is being reviewed, largely at the urging of biotechnology industry leaders who believe the law inhibits their ability to collect the massive amounts of data required for disease association studies. Of particular interest to industry lobbyists is a clause in the statute which establishes that each individual owns his or her own DNA and thus is entitled to exercise autonomy over its use. Researchers would like to strike that clause. Annas wonders at their motivations.

[Mark Compton]: At present, Oregon's Genetic Privacy Act explicitly defines a DNA sample as being the property of the person from whom the sample was harvested. But various researchers, pharmaceutical companies and biotechnology organizations have objected to this provision, arguing that it unduly interferes with their ability to collect disease association data. Having heard these complaints, the Oregon legislature is currently considering removal of the property clause, substituting in its place some as-yet-unspecified legal remedies. If the legislators decide individuals should not be permitted to assert property rights over their own DNA samples, what implications would you expect?

[George J. Annas]: That property notion was developed on the basis of the common-sense notion that no one should have greater authority over your own body and DNA than you. The other underlying premise is that the simplest way to protect that autonomy is to say simply that you own your DNA and if anybody else wants to use it, they can only do so with your authorization. The idea that anyone else can own your DNA - like the biotech companies or the researchers - while you can't strikes me as nonsense. It can't possibly be that everyone else in the world can own my DNA, but I can't. So when researchers at biotech companies complain about the property notion potentially interfering with what they're doing, what they're really balking at is having to go to the trouble of getting explicit authorization from individuals before using their DNA for commercial or research purposes. But that's something they should be doing anyway. So basically what they're arguing is that they should be allowed to take DNA without consent. And I just don't find that persuasive and I hope that ultimately the Oregon legislature doesn't either.

Should researchers get out of line somehow, would you think they'd have less to fear if the only recourse was state-imposed "legal remedies" as opposed to the current property clause?

Well, without knowing what the legal remedies are, it's hard to say. But again, I think it's likely that someone who can assert ownership, especially in the US, will have a stronger claim than someone who cannot assert ownership to an asset that's been misused or exploited for commercial gain.

Since Oregon's Genetic Privacy Act currently includes no enforcement provisions, might it be argued that the substitution of legal remedies for property rights actually puts some teeth into the statute?

It's possible. But again, that depends on what the remedies are. Ultimately, what you want to protect is genetic privacy - to protect individuals from having their DNA taken without their consent and then used without their authorization. So if we can achieve that end through criminal penalties, that would be fine.

Of course, generally in such cases, industry can be expected to have a hand in helping the legislators define appropriate remedies.

I certainly would not be surprised at that - in which case, I think it's unlikely criminal penalties will be seriously considered.

To get closer to some of the implications, there's a topical issue I'd like to explore. Just recently, a California startup called DNA Sciences mounted a splashy, nationwide public relations campaign announcing its goal to seek out as many as 100,000 DNA donors for a so-called Gene Trust. Billing its effort as a search for knowledge with the potential to change medicine forever, DNA Sciences is directing its appeal entirely to altruism, promising no compensation apart from free diagnostic tests for contributors (assuming, of course, that any such tests are ever developed). To your way of thinking, does this sort of appeal rise to the level of informed consent?

It certainly does not rise to the level of informed consent and I would be surprised, actually, if very many people end up taking them up on this offer based on their vague promise to protect privacy even as they go about collecting personal information about each donor. This is the very type of thing that demonstrates the need for state and federal legislation to protect individuals. Because there is no enforcement whatsoever behind these promises. People are being asked to act strictly on faith. And what do we actually know about this "Gene Trust"? Who's the trustee? For whose benefit is this being done? And if DNA Sciences chooses not to live up to their promises, what can be done about it? The answer is: nothing.

Also, although DNA Sciences and other groups like it routinely promise to preserve donor anonymity, is that even possible in an Internet-powered culture where we're repeatedly reminded that information wants to be free?

I don't think the assurances are worth much so long as it's possible to link the DNA sample with identifiable information about the donor. But generally when people talk about anonymous use of DNA, what they really mean is that it's going to be coded. And my argument is that the person who has that code can break that code. So that's not good enough. I think if you're going to use anonymous DNA, you have to have DNA that's not linkable, which is to say there's no possibility of somebody going back through the records later to find that individual.

But of course, from the researchers' perspective, maintaining that all-important context is vital if they're trying to develop disease association data.

Well, some have certainly made that argument. And, in some studies, identifiable DNA is undeniably important. But if that's the case, they should just go ahead and get the individual's authorization before moving forward. And that's not really all that hard to do.

So long as the authorization rises to the level of informed consent.

Exactly right. If the researchers decide to do a new project, they should be required to go back and get additional consent. But again, that shouldn't be hard because the only reason for keeping an identifier in the first place is to allow them to go back to the donor. So the argument that it's impossible to go back or cumbersome to do so is not particularly compelling - especially when they're arguing at the same time that they need to keep the identifier so they can go back and learn more whenever they feel the need to do so.

So let's say a donor's privacy actually is broached. What potential implications might that individual face?

It depends on what's in their DNA. Suppose there's an indication that they're at higher risk for a form of cancer or for early Alzheimers disease. If their employer finds out about that, they might not get promoted or they may even lose their job. If a life insurer finds out, they may not be able to get life insurance. Or they may only be able to obtain health insurance policies at prohibitively high rates. More important to me, the subjects themselves may end up finding out something about themselves they really don't want to know. For example, we haven't found the early Alzheimers gene yet, but assuming we do, researchers might find that a person is at a higher risk for getting early Alzheimers, and learning this may discourage that person from getting advanced training or going to medical school or doing any number of other things they might otherwise do - thinking they're not going to live all that long anyway. Or their spouse might start to think differently of them. Or their children might think differently of them.

So there's an element of self-fulfilling prophecy here?

No question about it. We know how much people agonize already over their health and get screened all the time for various forms of cancer, high blood pressure, cholesterol … you name it. You can magnify that 100 times with genes because we think of them as being that much more predictive. They're not really as deterministic as all that, but we tend to treat them almost as if they were magic. And in this case, perception is reality since there's a distinct possibility we would discriminate against ourselves should we suddenly learn we're at extremely high risk for various lethal disorders.

And might not the anxiety thus engendered be sufficient in and of itself to induce various adverse health effects?

That's very possible as well and there are many respected professionals who believe that's the case. Certainly, before we get into using DNA for clinical diagnostics, we need to have at least a couple hundred thousand genetic counselors who are able to talk to people intelligently about what genetics means. Because, at this point, it's certainly clear that very few people understand anything at all about the field - including physicians.

And apart from that education, is there some special informed consent that should accompany those kinds of diagnostics?

Absolutely. And we're just in the infancy of trying to figure out how to get informed consent prior to applying a wide panel of genetic tests, for example. It's one thing to get informed consent prior to a very narrow test, say, for the cystic fibrosis gene or even the breast cancer gene, but it's quite another thing to get informed consent prior to administering a battery of 1000 tests. And there are DNA chips being developed even now that will be capable of doing just that. In the future, it's conceivable that 10,000 - or even 100,000 - genetic tests could be run at the same time. I personally don't think it's possible to give informed consent to any and all DNA-based tests a researcher might ever choose to run. That would require something more like a waiver of consent, saying you really don't care what the researchers do. But I think that with genetic tests, which are potentially so life-changing, you'd be well advised to be quite specific with your consents.

Because once the veil of privacy has been pierced, is there really anything that can be done to make a person whole?

I think not, which is one reason why I've suggested that parents should not be allowed to test their children for diseases that aren't going to manifest until adulthood unless there's some way the disease can be prevented or mitigated during childhood. Otherwise, you take away the child's right not to know about their genetic predispositions. It's very important that decisions about testing be left for the individual to make once they're able to grasp all the implications.

And if the privacy of family members of a DNA donor should be compromised, what sort of recourse would currently be available to them? Perhaps more tellingly, what sort of recourse should be available to them, given the assumption that they provided no consent whatsoever - either informed or otherwise - to have their genetic material examined?

Right. It would be difficult under current law for them to show that they've been harmed. Usually, in malpractice law, we talk about specific harms - for example, a physical harm, medical bills or loss of earnings. So unless you can demonstrate that you were fired because somebody else in your family notified your employer of a genetic concern, it would be very difficult to get any satisfaction whatsoever under current law. The physician could always say he passed word to other family members about the genetic predisposition because he thought they might be in danger. And that's exactly why I think we need specific legislation that says doctors can never tell relatives about what they've found - only you can. And that, in turn, would protect doctors from malpractice actions for keeping those secrets. Because if we had a federal privacy law, everybody would know exactly what the rules were and would be able to act accordingly.

As for protecting individuals from unwanted information divulged by family members, I don't suppose we can really write legislation for that.

No, I don't think we can. That's part of being in a family. We often disclose and know a lot more about our family members than we may really want to know. But that's all part of the deal. Still, that can present problems. Take the example of twins who are both at risk for Huntington's Disease. If they're identical twins, that means either they both have the Huntington's gene or neither one of them has it. So if one wants to get tested and the other one doesn't, who should win in that case? Historically, the policy has been that a geneticist shouldn't test one unless both want to know. Personally, I think that's wrong. I think the right to know probably should trump the right not to know. So, in that case, the other one who doesn't want to know is probably going to have to move and not come in contact with their sibling. But I think the people who want to be tested should have a right to that information.

Another property consideration we haven't touched on yet has to do with the matter of compensation. Some believe DNA donors should be compensated in some way if lucrative discoveries are made on the basis of their DNA material. But without provisions that recognize a property right to one's own genetic material, are claims of that sort likely to gain any traction?

It's hard to see on what basis people could be compensated if the law doesn't believe they own the DNA in the first place. I guess if the researchers had some sort of agreement with the donors from the outset, then there might be a basis. But those kinds of agreements are all very problematic. It's unlikely in any event that any one individual's DNA is going to be all that valuable. Most studies are going to involve DNA from tens of thousands of people. But in the rare case where one person's DNA turns out to be valuable - like the John Moore case - yes, I think those individuals should be compensated.

John Moore?

Yes. There's a celebrated California case in which a man named John Moore had been diagnosed as having hairy cell leukemia. His spleen was subsequently removed, but the doctors didn't tell him they were going to give the spleen to a biotech company, which in turn used the tissue to develop an immortal cell line that could be used for therapeutic purposes. The patent for that cell line turned out to be worth a lot of money. And when John Moore finally found out what had happened a couple of years later, he sued to try and get some of the proceeds. Ultimately, the California Supreme Court held that the biotech company owned the patent, along with Mr. Moore's cell line, which led to the conclusion that he had no rights to it himself. That meant the only person he could sue was his physician for not explaining that his spleen might be used commercially. And today biotech companies continue to rely very heavily on that case [John Moore v. The Regents of the University of California]. That's exactly the sort of arrangement they want, because that case essentially says everybody can own your DNA except for you.

Also, above and beyond property protections, doesn't it make sense to have precautions in place that preclude employers and insurance providers from essentially implementing red-lining policies?

Yes, absolutely. That's what I call a fifth-line issue. The first issue for legislation is to prevent people from taking any tissues or samples or blood from you for the purpose of doing DNA analysis without your consent. The second level is to prohibit people from performing DNA tests using tissue or blood samples they already have without first obtaining informed consent. The third level is to prevent people from storing your DNA samples without your consent. The fourth level is to prevent people who have obtained results from disclosing them to third parties, such as employers, without your authorization. And the fifth level - the anti-discrimination level - prevents people who get information about you from using it against you. So you're exactly right. You need both privacy legislation and anti-discrimination legislation.

On the whole, does it seem to you that we're plunging headlong into the collection and analysis of personal DNA samples without having paid adequate attention to the rules, ethics and social norms that come into play?

I think the answer to that is "yes". It's all happening very quickly now. Just in the last year there've been dozens of little biotech companies that have started to go around collecting all the DNA samples they can get their hands on. And I've talked to a lot of representatives from these companies and they all say, "Gee, we don't know what the rules are. We're trying to kind of make them up as we go along." And there's some truth to that, although there has been work on these rules. There are published guidelines and things people can look at. But as a general matter, there's certainly no national standards, no federal legislation. Even our institutional review board's guidelines don't deal very well with stored tissue samples.

So from the biotech industry's perspective, it's better to ask forgiveness than permission?

That's where we are right now.

And who should be party to shaping public policy? Should that be left to government-commissioned panels of worthies or should these be matters that are thrown open to general dialogue?

I think they should be open to general dialogue. After all, what we're doing is asking average citizens to contribute their DNA or get involved in efforts to help biotech companies find something that may cure diseases. Ultimately, if any of this pans out, we're going to get more diagnostic tests and hopefully some effective treatments - all of which are going to be used by the public, so it makes no sense not to have the public involved in setting policies right from the start.

And there's also the possibility of backlash, isn't there, if the public is kept out of the discussion? Witness the current brouhaha over genetically modified foods.

Very true. There are people who are very worried that even the word "gene" is going to become like the word "nuclear". I don't want that. And certainly the example of genetically modified food is shaking up a lot of people in the biotech industry.

As a practical matter, what can be done to facilitate public dialogue? Eric Lander, Director of the Whitehead MIT Center for Genome Research, has been quoted as saying the public is "deeply, deeply uneducated" about the issues pertaining to biotechnology. If that's true, is there a way the public can ever be drawn into meaningful dialogue?

I think it's difficult, but the real question is: Do you try? I think most of the industry is looking for excuses not to even try. But the idea that these concepts can't be explained to the public strikes me as nonsense. It may be that researchers don't want to get informed consent because they don't think they can come up with palatable explanations for the research they're doing. But, believe me, once they're been required to obtain informed consent, they'll figure out how to do it somehow.

Editorial Note: Geneforum has come to understand that at the time of this interview with George Annas, DNA Sciences, Inc. had already adopted and implemented an independent IRB-approved consent process, applicable to all participants in the company's "Gene Trust" research project. According to DNA Sciences, their privacy policy and terms and conditions constitute legally binding contracts enforceable in a court of law.

About the Interviewer

Mark Compton monitors trends in information technology and biotechnology from a comfortable perch midway between the Silicon Valley and Oregon's Silicon Forest.

Kaiser Permanete letter to participants June, 2006

The pages in the three attachments are photographic copies of the letter sent to those insured by Kaiser Permanente in Oregon.

Make sure the choice is yours, not the insurance company's

Kaiser Permanente, a major health insurer in Oregon, has sent letters to its participants informing them that they may "opt out" of Kaiser's plan to use tissue and genetic samples from its participants for research and database construction.

In part, here's what the letter says:

The State of Oregon has passed laws about anonymous and coded genetic research. These laws give you certain rights. You may decide if you want your health information or biological samples to be available for use in future anonymous and coded genetic research. You also have the right to tell us not to use this information or these samples in research. It's your choice.

To participate
If you make this choice, you don't have to do anything.
Your health information or biological samples may be used for anonymous or coded genetic research at any time without further notice.

To decline participation
If you do not want to participate, you must tell us. By declining, your health information and biological samples will not be available for use in anonymous or coded genetic research. If this is your decision, please fill out the enclosed form. Then, mail . . .

As a non-directive parent, I discussed benefits and risks with my children and their spouses, but did not tell them what to do. Frankly, I'm not sure what I would do in the same situation.

Here are some of the things we discussed:

  1. Kaiser could use the information against them and deny insurance. The letter responds by stating: "Your decision will not affect the care you receive from Kaiser Permanente. It will also not affect your health insurance coverage." This statement is consistent with Oregon law; the US non-discrimination law is still in Congress.
  2. In anonymous research there are no links (presumably) between you and your sample (or data from your sample), In coded research, personal information used to identify you is kept separate from health information and the biological sample. In coded research, a link could be made to you if conditions justified making that connection (perhaps if they wish to notify you that you have a gene for a fatal condition). Or, a computer could be stolen (as in the VA Administration case) and your information would then no longer be secure. According to information I received, Institutional Review Boards (who must give permission for human research) no longer allow Informed Consent statements to say things like "We guarantee your privacy." since guarantees are no longer possible.
  3. According to the form, you choose to opt out of both anonymous and coded research. You cannot opt out of one and allow the other. So you cannot allow anonymous research for the benefit of others without allowing coded research (where your personal information is available, but separate).
  4. The decision is made individually, by name, for each member of the insured family. In one daughter's case, this involves making the decision for their 3-yr-old daughter as well as themselves. If they choose to opt out the daughter, they will also have to decide, when the next child is born, what to do with that child's information and samples.
  5. The decision is not irreversible. You can change your mind later by notifying the address given. However, if you do not opt out before July 1, 2006, any work or information already used in research before you opt out will not be removed from the research database.

We discussed other items, I believe, but this gives you the general idea.

If you live in Oregon and are insured by Kaiser Permanente, you have a decision to make. If you've already discarded the letter, thinking it junk mail, and you wish to read it in full and consider opting out, contact them for a new copy. I've also posted copies of the three pages in our resources/articles section.

If you live in California, and are insured by Kaiser Permanente, be aware that your time is coming. The process is in the works and Kaiser has requested approval from the appropriate IRBs for similar action in your state. I haven't checked on other states.

Marie Godfrey, PhD

Medical family histories are powerful tools

Today's online edition of the TimesDispatch from Richmond, Virginia sums up the benefits and drawbacks of medical family histories in a very readable way. Here's some of what the author Betty Booker has to say:

If Daddy died of a heart attack and Mommy had a stroke, you ought to keep yourself fit and lean. . . But, you knew that already, right? If Grandma had a stroke and Grandpop died at the office in a gray flannel suit, then you have more reason to get serious. And if your great-grandmother had a stroke cooking at the wood stove and your great-grandfather dropped dead plowing the north 40, you really do have a genetic inheritance demanding attention.

Here are some of the author's reasons for compiling histories and for genetic testing:

If you can piece together your health history, you can track disease and health patterns that could make a huge difference in your life and those of future generations. Knowing what diseases your kin had, and their causes of death, can help your doctor understand your own health problems--and better yet, teach you how to prevent them.

Preventing--or delaying--the onset of serious health problems by what you do to improve your health may prolong independence. And taking responsibility for your health based on your family history can save you a lot of pain, disability, surgeries, medicines and high medical bills.

Elders with serious health problems sometimes will get genetic testing as part of their legacy.

Some seniors elect to store DNA material to be used when more advanced tests are developed in order to help their children and grandchildren. [This is what I recently did with my husband's DNA.]

The "most common, costly and preventable" chronic health problems are heart disease; stroke; diabetes; and colon, breast, and ovarian cancer, according to
the U.S. Surgeon General. Knowing whether any of our ancestors had these problems, and making full use of
the scientific information available about how to avoid these diseases or detect them early could significantly influence or own health future.

So, what are the potential problems?

Key people in our families may have already died without leaving details of their medical history. Collecting information isn't easy if your older relatives have memory problems.

The information that we collect generally is incomplete and it may not always be accurate.

The information is highly personal--"and not all of it is yours. If your history includes an aunt's breast cancer and a brother's depression, for instance, their private information should be protected."

There's always a chance your information can get into the wrong hands--especially if you complete personal family history forms online. However, online forms that are connected to databases of information can give you predictions about how your family's health history may affect your own future--if you understand what the "predictions" mean.

The author concludes: "Family health histories are part of a larger trend of data-rich medicine. . . Instead of working on a lot of hunches about how a patient should be treated--which is still pretty much how medicine works today, doctors in the future will have huge population databases to guide their decision-making about individuals based on evidence of their genes and other factors."

The steps are straightforward--if you can get the medical information you need. To start, prepare for your next family gathering--large or small--by checking out one or more of the following websites:

Enjoy! Creating your family's medical history is not only worthwhile, it's fun.

Marie Godfrey, PhD

Genetic Testing Guide

With the generous support of the Collins Medical Trust this interactive guide is designed to stimulate discussion and elicit consumer values on genetic testing. Genetic testing is an important and powerful technology that is impacting health care planning and decision making. To track and better understand this rapidly evolving technology, Geneforum has put together this guide. This guide is integrated with the Genetizen – a blog authored by experts in the field of bioethics, genetics, and healthcare who comment on and analyze current developments in the field.

Breast cancer genetic counseling helping women in England

The United Press International reported yesterday: More women are seeking out genetic services to learn about family breast-cancer risk, and a Welch review found many have less stress and worry. "Many people have spent years worrying about cancer in their family," said review co-author Rachel Iredale of the Institute of Medical Genetics at Cardiff University.

A genetic risk assessment enables people to reach a better understanding of hereditary breast cancer, their own personal risk, and means access to additional services, such as extra mammography screening or genetic testing, is often easier. Most people are satisfied with the service they receive.

The press release concludes by citing the source of the information: three studies of 1,251 women who underwent genetic risk assessment for hereditary breast cancer. All of the studies showed that genetic counseling improved patients' psychological well-being and decreased their levels of anxiety and worry about developing cancer, according to the review in The Cochrane Library.

I've been reading about this study in several other sources and will track it down to see what else the study itself can add. More in another blog entry.

Marie Godfrey, PhD

Can a genetic test predict your chances of heart disease?

Internet news stories are boring for a while and then two interesting things can come along the same day. Today, just as I finished completing a survey on nutrigenomic genetic testing--the testing that claims to tell you how to change what you eat and how you treat your body, based on your genetic makeup--I found a slew of stories stating that there is no genetic link for heart disease risk.

The stories are in many places, but most of them read the same, starting as follows:

 No genetic link found for heart risk, study says

Tests failed to find mutations that would predict cardiovascular disease

Updated: 12:13 p.m. PT April 11, 2007
CHICAGO - Genetic testing failed to find any gene mutations that predict a higher risk of heart disease, a study released on Tuesday said.

Scientists at Yale University worked up the genetic profiles of nearly 1,500 people to examine 85 genes that smaller, earlier studies suggested might confer susceptibility to heart problems.

More than half the patients had come to a hospital having suffered a heart attack or other acute symptoms, while the others had experienced no heart trouble.

Only one genetic variation showed even a modest association to heart problems in the study, which was published in the Journal of the American Medical Association.

“We therefore conclude that our findings, in this large sample ... cannot support that this panel of gene variants contains bona fide (heart disease) risk factors,” study author Dr. Thomas Morgan wrote. Morgan is now at Washington University in St. Louis.

So, can nutrigenomics genetic testing--or any other form of genetic testing--predict your risk of getting heart disease? Not according to the Yale study. BUT, as I noted in an earlier blog entry, there are some forms of heart conditions that have been shown to have strong genetic components to them. One of these is the type of cardiomyopathy that is all-too-often the cause of sudden death of people in their 20s and 30s. For a story related to this, please select the Your Stories tab at the top of the page and read about the woman who cheated death.

Marie Godfrey, PhD

Catching problems before they destroy lives

And here’s the latest news: Oregon wins by a score of 49 to Utah’s 46!! Football? A very defensive basketball game? Certainly not soccer, hockey, or baseball. So, what’s the game?

The game is Life and the scores are based on available newborn screening for life-threatening conditions and diseases. If you happen to live in Washington State, the score would be 14. If your child is affected by one of the genetic conditions not screened for in Washington—or Virginia, where Stephen Monaco was born—there’s a very small, but real, possibility that your child could die or be severely disabled by an undiagnosed genetic condition.

Here’s what happened to Stephen:

"Stephen came into the world just like any other healthy baby," Jana Monaco, Stephen's mother, says. But when he was three-and-a-half, he had a stomach virus when his parents put him to bed one night. "That was the last time we said goodnight to each other and ... I love you," Jana says.

When he woke up, he had suffered a metabolic crisis that nearly killed him. "They told us then, 'If he makes it through the weekend, he won't be the same child you knew and loved,'" Jana says. Just 24 hours later, he was left a severely disabled child with complicated medical issues. "It was one day. He went from making his grandmother's birthday cake to being on life support," Tom Monaco, Stephen's father, says.

Stephen was found to have isovaleric acidemia (IVA), a genetic metabolic disorder not then screened for in his birth state (Virginia). The Monacos encouraged Virginia to screen for the 29 conditions recommended by the American College of Medical Genetics. "The first six months after the expanded screening, 22 babies were picked up with these disorders," Jana says. Among those screened, Stephen’s sister, Caroline, was also found to have IVA. She was placed on a restrictive diet and is happy and healthy at 4 years.

Stephen can't walk, talk or feed himself. But he inspires his parents and many others everyday. "If we can help one family not have to go through this, then we've done our job," says Tom. That's how Stephen is making a difference.

You can read the full story and view a video from the Ivanhoe Newswire and can find out what your state screens for by checking the frequently updated listings.

By the way, although the subject for this blog entry is identified as "genetic testing", newborn screening does not look at DNA, but at the effects of specific genes on chemicals in the blood. Some hospitals do now save the blood samples taken from the heel of a newborn just after birth and severl weeks later as sources for additional testing and for potential genetic testing using DNA extracted from the sample.

Marie Godfrey, PhD

Cheap genome maps--under $1000?

The big hype this week in genetic testing comes from the addition of yet another company to those hoping that we are so interested in learning about ourselves that we will fork over $1000 (or $999 or $985 at a discount) for a map of our own genome.

Here are some things about this subject you might want to know:

1. How do you take a sample? You won't know the details until your kit arrives, but you will most likely learn that the sample will be saliva or a rubbing from the inside of your cheek. You don't have to provide a blood sample. If the company info doesn't provide clear enough instructions, be sure you rinse your mouth well before taking a sample; you'd probably hate to pay $1000 for the genome of that beef or corn you just ate.

2. What are you consenting to when you provide a sample? In one case, you have to give your name and an address (e-mail?) before you get to read this part. I chose not to give my name, so I couldn't see the consent form. The other company's pages took a while to load (maybe it's my machine), and I found them quite lengthy when they did arrive.

To get the sample kit, you have to give a mailing address; one company requires you to certify that you actually live in the state to which the sample kit is being sent.

3. Will your information be protected? Because I couldn't see the consent form on one site, I would have to rely at the moment on a news release advertising one genome company. It states that the "founders say the personal data in their system is secure and under the user's control, protected by more than a dozen levels of authentication and encryption from the lab to the user" However, the article also likens the result posting to "a kind of genetics-focused MySpace or Facebook". In my mind, these sites are for sharing information with others, so there's some confusion in my mind about whether the company expects people to want to protect their privacy or to share their results. The website promotes adding other people's samples to the order as well as selling family members on the idea.

The other site I checked has a full service agreement and consent. If you're used to just checking "I accept" on these, you may want to check out what you're agreeing to before you do. Lots of legal stuff.

3. What will the results look like? Your genome map will not look like James Watson's or Craig Venter's. The map is based on SNPs, not full DNA sequencing. Here's what one company does:

Your DNA is washed over a small microchip-like device that contains short strands of synthetic DNA. The synthetic DNA fragments latch onto the pieces of your DNA that are a complementary match. Then a laser-scanning step reveals which strands of synthetic DNA are stuck to your DNA to determine your genotype. The chip used in our process . . . reads more than 550,000 SNPs (single nucleotide polymorphisms).

A SNP is a single nucleotide variation, such as a guanine instead of a cytosine. Your "map" will be only a fraction of the 10 million SNPs that are estimated to be in the human genome.

Oh, and by the way, you can see your results only online and the company always has access to your information. Otherwise, how could they provide "updates" based on your data? Check out the computer requirements for viewing the data. I didn't know that Adobe Acrobat Reader 9 was out yet and I know that "player" programs have to be frequently updated.

4. What do I really learn? Be prepared for a disappointment. Although you will receive results for "nearly 600,00 datapoints", you still may not know much about your present or future. One company focuses on 14 "known" conditions, including dry vs. wet earwax, and the other company features 17 conditions. Is that what you expected?

And, finally, what I always say about genetic testing. Before you order a genetic test, figure out what you are going to do with the results. Then, spend your $1000 if you must. It's not my children's heritage.

Marie Godfrey, PhD


Genetic Design

There's an interesting article in this month's While primarily about 23andMe and the future of "Web-surfing your own DNA," the thing that caught my eye was the interactive feature.

This graphic was created for the story by Martin Krzywinski, who placed the human genome in a circular pattern. The chromosomes are represented on the outside of the circle and colored dots are for disease-related genes. The lines inside the circle show gene linkages and similarities. Based on a quick glance of Krzywinski's site, it looks like the feature was created using Circos, "a Perl application for the generation of publication-quality, circularly composited renditions of genomic data and related annotations."

Genetic information is inherently complex to understand, represent, and convey to non-scientists. Images can be incredibly powerful tools of communication, as people respond to images instinctively based on their personalities, associations, and previous experience.

More and more people are taking part in genetic tests, services, and research. It will be fascinating to see how advances in graphic design either enable or undermine our ability to fully comprehend and interact with all the resulting genetic information.

What good/bad examples of genetic design have you seen?

Genetic testing discussed by NPR

The National Public Radio site has an article posted online by Sarah Handel. The story includes also a link to audio of the broadcast. The story starts:

Our bodies are full of untold secrets about our futures. Turns out, predispositions for various diseases are plain as the nose on your face... If only someone takes a look at your DNA. OK, that's simplifying things, but there are now a variety of tests you can take to see if, say, a family history of breast cancer means you'll get it too. Or if you're going to pass cystic fibrosis on to your kids. Have you gotten tested? Do you want to? How much do you want to know about your medical future? What if one day, there's a test that will tell you how long you'll live (barring accidental death, of course)? Would you want to know? Is there a difference between knowing for yourself, and knowing about what genetic markers you could saddle your kids with?

You may find the stories and comments attached to the article very interesting and informative. For example,

How do you suggest stopping insurance companies from not insuring a person or dropping them if they're tested? They regularly drop people for pre-existing conditions. If you aren't tested, you at least have plausible deniablity. I just don't think it's worth the chance. Tested when you're born for Alzheimers by your parents and denied insurance at 21? Or have your entire family insurance cancelled while you're still a baby because you test positive? This is happening now - it's not a "what if". I would track family members with conditions within the family.

Check it out if you're interested in genetic testing and its implications.

Marie Godfrey, PhD


Genetic testing for breast cancer: marketing through fear

I wondered the other day when I saw a commercial advertising genetic testing for "breast cancer genes" whether the company that patented the tests for BRCA1 and BRCA2 and controls this segment of the genetic testing market was starting to have declining sales. They haven't advertised before; why now?

Perhaps their advertising is justified by the fact that, according to an article in the New York Times, "only 30,000 of more than 250,000 American women estimated to carry a mutation in BRCA1 or a related gene, BRCA2, have so far been tested."

In any case, the advertisement caught my attention and that of a number of other people--including the Attorney General of Connecticut. According to an article from the phg Foundation,

A US television advertisement for familial breast cancer testing has attracted criticism from oncologists and geneticists, who say that advertising a specialised genetic test to the general population could cause anxiety among women for whom the test is not actually appropriate. Director of cancer genetic counselling at the Yale Cancer Center Ellen T. Matloff said: “It really preys on the fears of our society, and one of those fears is getting breast cancer” (see New York Times article). Inherited mutations in the BRCA1 or BRCA2 genes can confer a lifetime breast cancer risk of up to 85%, and an ovarian cancer risk of up to around 40%; however, only a small proportion of breast cancer cases in a population arise in women with a BRCA mutation. Normally, only women considered to have an increased risk of carrying a mutation based on their family history (such as several affected relatives, and/or early onset cases in relatives) are referred for genetic counselling and the option of genetic testing.

The attorney general of US state Connecticut has ordered an investigation of the claims made by Myriad in the advertisement. However, Myriad president Gregory Critchfield has said: “The purpose of the BRACAnalysis public awareness campaign is to save lives" by identifying BRCA mutation carriers (see press release). He added that: "We are committed to working with healthcare providers around the country to provide useful resources for them to offer hereditary risk assessment, counseling and genetic testing to their patients". However, the key issue is what proportion of the women prompted to ask about genetic testing will be at genuinely increased risk of having a mutation, and whether direct advertising of this genetic test is appropriate.

The ad I saw did not seem to fit with Myriad's contention that the "campaign is being initiated with the hope that women with a family history of breast or ovarian cancer will contact their physicians to learn more about their risk of developing cancer and the actions they can take to reduce their risk." (see press release) I also find it interesting that I am in Portland, OR, but, according to the press release, the "advertising component is being conducted specifically in four areas, namely Boston, Hartford, Providence and New York City." Perhaps The DISH network enabled me to see something being broadcast elsewhere.

According to the New York Times:

Critics say that advertising such a complex screening test to the general population might create unnecessary anxiety among women and lead to overuse of the test, which costs $3,120.

“It really preys on the fears of our society, and one of those fears is getting breast cancer,” said Ellen T. Matloff, director of cancer genetic counseling at the Yale Cancer Center.

The Connecticut attorney general, Richard Blumenthal, said his office had issued a subpoena for information from the company. “We’ve determined that there’s enough serious and significant doubt about the accuracy of some of their claims that we feel a strong need to investigate,” he said in an interview.

Myriad officials are reported as responding:

Myriad, which said it would cooperate with Mr. Blumenthal’s request, defends the commercial and other elements of what it calls a public awareness campaign. The company says that while its test has been given to about 200,000 women since 1996, only 3 percent of the women believed to harbor the harmful mutations that can be detected by the test have been identified so far. Therefore, the company says, there is a need for much more extensive testing.

“What we are doing is raising public awareness so they will have a conversation with their health care providers,” said Dr. Gregory C. Critchfield, president of Myriad’s genetic testing business. “Those individuals, if they are tested and identified, can avail themselves of means to reduce the risk of cancer.”

The New York Times summarizes details of the test as follows:

Myriad’s test, called BRACAnalysis, detects mutations in genes called BRCA1 and BRCA2. Women with a clinically significant mutation in one of those genes have a 35 to 84 percent probability of developing breast cancer by age 70 and a 10 to 50 percent probability of developing ovarian cancer, far higher than for women in general.

Women with the mutations can reduce their risk of cancer by taking certain cancer-prevention drugs or having their breasts or ovaries removed. They can also be screened more frequently for early detection.

But mutations in the genes account for less than 10 percent of all cases of breast cancer. And only 1 in about 400 women has the mutation. (The risk of a mutation is about 10 times as high for women who are Ashkenazi Jews, but they can be tested for three specific mutations, for a cost of $460.)

In an interesting side note, the article claims that only docotrs can order the test. I don't remember that being a requirement when I last checked their website. And, women getting genetic tests from other online sources are, in fact, getting the Myriad test.

Many of the 200,000 women who have had the test since 1996 may have been influenced by Myraids' early marketing (with the same ad) in a five-month test in Denver and Atlanta in late 2002 and early 2003. That campaign, and scientific articles on BRCA1 and 2 have been enough to generate enough business to last over 5 years. According to the New York Times,

Dr. Critchfield said Myriad waited nearly five years to start the new campaign to give more time for health care providers to learn to handle genetic testing. "We are in a far different place today than we were then," he said.

Well, at least one thing is probably true: I doubt Myriad will call me again for help in writing documents. By the way, those of you who remember that I do not generally name specific companies should know that Myriad is the sole provider of the BRCA1 and 2 tests; and the ads don't make this very obvious. So, I have referred to them by name.

Marie Godfrey, PhD

Genetic testing sheds light on degenerative eye disesase

Now, here's a genetic test I would be very interested in and would be willing to pay for. My mother and her sister both have lost much of their eyesight to macular degeneration. I thought there was just "wet" and "dry" macular degneration and, frankly, have been avoiding the issue because I greatly fear blindness.

I learned today in an article in Science Daily ( that at least four genes identified for varieties of macular degeneration and genetic tests already exist. Also, treatments are being approved now that might be helpful to me. I already have my eye exams yearly, including a retinal examination. And I know that treatments are being tested and approved. Now, it may be time for me to decide whether to have genetic testing and, if so, where to have it done.

I've told you readers many times to look at how you will deal with the results before you choose to have genetic testing, and the authors of today's article in Science Daily--whose title I stole for the title of this blog entry--apparently seem to agree. I'm writing today about that article, rather than the University of Michigan Health System news release, or the original article in the Archives of Ophthalmology because I feel that the public is more likely to see common newspapers or online sources than professional journals or university notices.

The article quotes Dr Radha Ayyagari as urging people to prepare for all possible results:

Genetic counseling is a crucial part of the genetic testing process, particularly when the patient may face the possibility of blindness, says Ayyagari. The family needs to prepare for all possible test results, understand the implications of test results for the patient and other family members, and be aware of the limitations of genetic testing. If physicians do not have the time or skills to provide this background, Ayyagari urges them to refer their patients to genetic counselors.

So, here's some of the news I read in the article:

Ayyagari and her colleagues report on 350 genetic tests conducted since 1999, when the U-M Ophthalmic Molecular Diagnostic Laboratory became one of the first laboratories in the nation to receive government approval for ophthalmic testing under the Clinical Laboratory Improvement Amendment (CLIA). For each test described in the current study, scientists analyzed one or more of eight genes known to cause diseases of the retina.

Here's the response to one of my first criteria for submitting to genetic testing: the laboratory doing the test has to be CLIA certified. Although there is no specific certification yet for genetic diseases, a laboratory meeting CLIA standards for biologic testing is more likely to be qualified to perform the tests in which I would be interested than a laboratory not CLIA certified.

Costs and how to get the test done?

The U-M Kellogg Eye Center's Ophthalmic Molecular Diagnostic Laboratory was established by Paul A. Sieving, M.D., Ph.D., formerly a U-M faculty member and now director of the National Eye Institute. For further information on the laboratory, see the web site at

I checked the site and found the contact information I needed.

What do the tests test? The necessary info is available on the website. Plus, there's a lot of information directed to the interested person:

Please let us know if you are interested in a gene that is not on this list.

Indications for molecular diagnostic testing

  • Clinical diagnosis for patients with signs and symptoms of disease.
  • Pre-symptomatic testing for individuals who do not have the disease but, given family history, are at risk for the disease.
  • Carrier testing for individuals who may carry a gene mutation that can be passed on to children.

Comprehensive services include:

  • Certified laboratory testing (CLIA ID# 23D0964501)
  • Written report of results for the patient
  • On-site genetic counseling for patients both before and after testing. The pre-test session educates patients about the scope of testing and helps them set realistic expectations; the post-test session will help patients interpret results and their implications for the patient and family members.

The Ophthalmic Molecular Diagnostic laboratory accepts referrals from:

  • Ophthalmologists, genetic counselors, geneticists and other health care professionals
  • Patients with a designated health care provider to receive the report and discuss the results with them

For additional information, contact
phone 734-647-6347
fax 734-936-7231

How good are the tests? I can check the peer-reviewed professional publication, the credibility of the journal in which the article was published, and previous publications and determine for myself whether the news article is accurate in saying:

Ayyagari and her colleagues report on 350 genetic tests conducted since 1999. For each test described in the current study, scientists analyzed one or more of eight genes known to cause diseases of the retina.

Of the 350 tests, 266 were performed to confirm a clinician's diagnosis, by far the most common use of genetic testing for eye disease. Another 75 tests sought to determine whether an individual was a "carrier" of a disease, and nine tests were used to predict the likelihood that an individual with a family history of a given eye disease would go on to develop it.

Ayyagari's team was able to determine the molecular basis of the disease in half of 266 tests conducted to confirm a diagnosis. The study also reported that a diagnosis could not be confirmed in 133 cases, or half the tests conducted to confirm a diagnosis.

And, I can read what the scientists say about the purpose of the testing and how the testing is used:

The authors observe that genetic testing for eye disease is a relatively new and evolving practice. Says Ayyagari, "Molecular diagnostics does not replace the necessary expertise of the ophthalmologist; rather, it adds a new tool to the ophthalmologist's diagnostic arsenal."

These results are significant because many retinal diseases present similar symptoms, and it is sometimes difficult for even the most skilled specialist to distinguish one from the other. By comparing a patient's DNA to known disease-causing genes, scientists deliver information needed to confirm or rule out a diagnosis. To date, scientists have identified over 130 genes associated with retinal disease, such as retinitis pigmentosa and macular degeneration.

What about all those negatives?

"It is very difficult for patients to understand that the test may not be definitive," says Ayyagari. "Genetic testing may not always yield the firm facts we receive in other kinds of testing, such as blood tests for cholesterol levels."

I have a lot of what I need from the Science Daily article, which I consider a reputable source of information, and can access a lot more with some more time at the computer and in the library.

Now, all I have to deal with is what I started with: what will I do with the results? I will not do the testing until I can answer that question.

If you have had genetic testing, what steps did you go through deciding what to do? Perhaps you ordered a test for the fun of it, were encouraged by a friend, or wanted to learn something without your insurance company knowing. Go to the "Your Stories" link at the top of the page, and send us your story. You will have to supply your name and e-mail addres, but neither will be printed or shared with organizations beyond Geneforum.

Marie Godfrey, PhD









Genetics tests available to healthy young adults

have you ever considered having a gentic test done? How would you get the information you need? How would you deal with the results?

These are some of the questions adults 25 to 40 years old may be asking.

A new initiative from the National Cancer Institute has been launched to "investigate the interest level of healthy, young adults in receiving genetic testing for eight common conditions."

Called the Multiplex Initiative, the study will also look at how people who decide to take the tests will interpret and use the results in making their own health care decisions in the future.

The test being used is designed to yield information about 15 different genes that play roles in type 2 diabetes, coronary heart disease, high blood cholesterol, high blood pressure, osteoporosis, lung cancer, colorectal cancer, and malignant melanoma.

"The Multiplex Initiative will provide insights that will be key to advancing the concept of personalized medicine," said NHGRI Scientific Director Eric Green, M.D., Ph.D. "As genomic technologies are introduced for wider use, researchers and clinicians will need to know how genetic susceptibility tests will be received by patients. This study will be an important first step in understanding how such testing can be practically used in primary care settings."
According to the news release,
Researchers at Henry Ford Health System, a major health provider in metropolitan Detroit, are recruiting individuals between the ages of 25 and 40 to volunteer to participate in the study. The participants are being selected through patient lists from Health Alliance Plan, the largest managed care plan in Michigan, owned by Henry Ford Health System and the Henry Ford Medical Group, the health system's group medical practice of more than 900 physicians and scientists. A total of 1,000 participants who meet the study's eligibility requirements will be offered free multiplex genetic testing. A total of 1,000 participants who meet the study's eligibility requirements will be offered free multiplex genetic testing.
I do not know whether they will accept volunteers not in the Health Alliance Plan or the Henry Ford Medical Group, but it's worth contacting them if you are interested.
Waht about security of your genetic information? It appears that the group understands that young adults are very concerned about this issue.
To protect patient privacy, test results obtained during the Multiplex study will not automatically become a part of participants' medical records. However, participants who want to share their test results with their health care providers may do so.
The actual genetic tests will be conducted at the Center for Inherited Disease Research (CIDR), a world-class genotyping facility that is jointly operated by NIH and The Johns Hopkins University.
Wow, I'm impressed. It's not often a news release knows enough about Hopkins to call by its correct name The Johns Hopkins University. Not only is the "s" on Hopkins, the word "The" is in its proper place. Cheers to my alma mater.
Marie Godfrey, PhD

Heads they win; tails you lose--genetic testing and insurance

While the U.S. legislature debates whether discrimination is occurring in insurability of its citizens, many Canadians are paying higher premiums for critical care insurance even when genetic tests are negative. This report comes from cbc news.

Canada has public health care for ordinary illnesses, with more limited protection for debilitating conditions such as cancer. People can buy additional insurance to cover these potential problems, and insurance in this category is a fast-selling product. It covers such things as strokes, heart attacks and some types of cancer or diabetes.

Susan Goldberg of Thunder Bay, Ont. didn't inherit the genetic mutation that led to the deaths of her mother and grandmother from cancer; but she still pays 75 per cent more for her insurance than the typical client. A test showed that [she] didn't inherit the genetic mutation that led to the deaths of her mother and grandmother from cancer.

Why wasn't her negative test result taken into account in determining the insurance premium? It turns out that insurers

. . . sometimes set rates for a client based on their family history, even when genetic tests show that the individual doesn't have the genetic mutation that has made their families high-risk in the past.

That is, insurance companies rely more heavily on family history than genetics.

So in assessing someone looking for insurance for breast cancer, the company would consider such things as:

  • Whether her breasts were exposed to radiation.
  • Whether she had her first child after the age of 30.
  • Whether she had prolonged hormone replacement therapy after menopause.
  • Whether she had a positive genetic test.

A check mark beside any one of those things is likely to increase the premium. But there's no box to check in the absence of any one of those conditions, and nothing saying how negative genetic test results would affect a rating.

Although insurance companies--by law--cannot require someone to have a genetic test, they can use the results if the person has had such a test. In fact, not revealing the results of such a test can be considered insurance fraud.

Oh, you say, that's Canada, not the U.S. Have you any idea how U.S. insurance companies decide to charge higher premiums or deny insurance? Probably not.

Is there discrimination based on genetic makeup? Yes, I believe there is.

Marie Godfrey, PhD

New information on the genetics of Type 2 diabetes

Although I've chosen "genetic testing" as the topic for this blog entry, none of the new "genes" reported in the latest news have had genetic tests developed for them yet. So, you cannot run out and get tested for these genes yet.

Today, Associated Press medical writer Lauran Neergaard wrote an article, New diabetes risk factors found, that is hitting all the newspapers and online services. The author writes:

Scientists have found clusters of new gene variants that raise the risk of Type 2 diabetes — and how the researchers did it is as important as what they found.

So, what did they find and what is the technique that is so important?

First, their findings:

Four previously unknown gene variants that can increase people's risk of Type 2 diabetes, and confirmation that six other genes play a role, too. The highest-risk variants can increase by 20 percent someone's odds of developing Type 2 diabetes. Among the genes implicated:

  • One that helps pump zinc into insulin-producing pancreatic cells, raising questions about the metal's role in insulin secretion.
  • A pair previously linked only to certain cancers, another brand new area for diabetes researchers to probe.
  • A region of chromosome 11 where genes of any sort had never been described.

Second, how did they do it?

The new work scanned DNA to find patterns of small gene variations known as SNPs (pronounced "snips") more common in diabetics. SNPs can serve as signposts for tracing disease-promoting genes. To be certain the implicated SNPs were involved, the researchers then checked for them in still more volunteers, ultimately testing DNA from 32,500 people in Britain, Finland, Poland, Sweden and the U.S.

This type of research — called a "genome-wide association" study — promises to usher in a new era of genetics. Most breakthroughs so far have come from finding a mutation in a single gene that causes illness. But some of the world's most common killers, such as heart disease and diabetes, are caused by complex interactions among numerous genes and modern lifestyles — and teasing out the genetic culprits until now has been almost impossible.

You do not need to know what SNPs are to understand the research, but you might want to know about a word not used in the article--genomics. Genomics is the study of an organism's entire set of genetic material. Genomic studies are typically conducted with samples from more than one person, mouse, virus, etc., although it is possible to map the genome of a single individual. In this search for DNA variations possibly associated with Type 2 diabetes, 32,500 different sets of DNA were involved.

One other bit of information that might be helpful to you. Type 2 diabetes is the variety of diabetes initially thought to result strictly from obesity and lack of exercise. People generally develop this type as adults. Type 1 diabetes, also known as juvenile diabetes, typically develops much earlier. We've known for some time that genetics plays a factor in the potential for developing Type 2 diabetes. Now we know that at least 10 genes may be involved. Therefore, there is no single "gene" for diabetes; there are many that may play a part.

You can access the full AP article, but the Science and Nature articles both require subscriptions.

Marie Godfrey, PhD

New multi-gene test for predicting breast cancer probability

The United Press International posted a news article today stating that a U.S. biotech firm has launched "the first genetic-based, breast-cancer-risk test to the global market.

According to the news release,

The test, to be sold as OncoVue, uses a patient's personal history and gene-based information to determine future breast-cancer risk.

"OncoVue has undergone over seven years of research, and the genetic information for this test came from the testing of over 8,000 women with and without breast cancer from five geographic regions of the United States, giving us the support to introduce the test to an international market." said Craig Shimasaki, InterGenetics' chief executive officer and president.
InterGenetics said U.K. genetic clinic chain Opaldia will release OncoVue in the United Kingdom and Ireland under an exclusive agreement.
The test, which could be a rival for Myriad Genetics test for BRCA1 and BRCA2 genes, involves a medical history questionnaire, followed by use of a mouthwash, which collects cheek cells form the patient for DNA analysis. The OncoVue test analyzes combinations of genes, rather than any single gene alone.

The cancer risk supposedly detected by the test is for "sporadic breast cancer" which, according to the news release, accounts for 90 percent to 95 percent of all breast cancer cases. Myriad's test, on the other hand, examines the genes believed to be responsible for about 5% of all breast cancers.

Let's be cautious until we learn more about the test. Remember that genetic tests do not need FDA approval so this possible layer of quality control is not in place. I, for one, will need to learn more about the basis for the test and its success rate.

Marie Godfrey, PhD

Personalized medicine is possible, but is it likely?

I found an interesting article in the Feb. 27th issue of the Arizona Republic that suggests that genetic testing used for adpating treatment to an individual person is still a ways off and--perhaps--may only be another way of separating those with money from those without. The author, Ken Alltucker, starts as follows:

Genes can be powerful predictors of a person's future health problems, but testing a patient's genes to tailor treatment strategies remains at the cutting edge of health care and legal professions.

The promise behind personalized medicine is that genetic tests can be used to craft ways to detect, treat or delay disease. Yet using genetic tests to tailor health care strategies is rarely done. These tests are too expensive for the typical patient, and many doctors aren't trained properly to administer, assess or use the tests for patient care.

He then discusses the obstacles to personalized medicine:

Many things need to happen before personalized medicine becomes routine care, though. Not all doctors are convinced that DNA triggers a disease as much as environmental or lifestyle factors. Ethical concerns persist about how data from genetic tests will be used.

Perhaps the biggest hurdle is the expense to administer the tests and whether insurers will pick up some costs as part of standard care.

Another major hurdle before such tests become part of standard patient care is ensuring that patients can easily afford them.

The costs of genetic testing have come down dramatically because of lower costs of equipment and computers. Still, these tests can cost $3,000 or more, for example, to detect whether a breast cancer patient is likely to experience a recurrence.

He finishes by noting that some "lawyers and health care interests worry that personalized medicine will create a caste system of sorts" and wondering, "are we going to create a society with two tiers of patients? Those who can afford these tests and those who cannot?"

So, besides the promises that individualized medicine can provide better health care, what's fueling the media hype that genetic testing is the wave of the future? Think . . . lawsuits.

More on this in the next blog entry.

Marie Godfrey, PhD

What will prostate genetic testing do for men?

I've written several times about women who have double mastectomies after learning that they carry a BRCA1 or BRCA2 mutation and, as a result, are many times more likely to develop breast cancer than women without one or both mutations.

The news in the past couple of days has been describing 5 genes identified as conferring risk of prostate cancer. Apparently the effects are additive in that one gene mutation alone is not enough to give increased risk.

None of the articles I have read indicates what men will do with the information if a test is developed and they learn of their increased potential for getting prostate cancer. Apparently the genes do not affect PSA (prostate specific antigen) levels, so there's no indication that the current standard test for prostate cancer would be helpful.

Naturally, screening of all types could be done more frequently, as could mammograms for women. But, I can't help but wonder whether at-risk men would be as quick to have a prostetectomy as at-risk women seem to be to have mastectomy.

And none of this information considers whether the genes that are associated with increased risk of breast or prostate cancer, when mutated, can increase cancer risk in other tissues. I have argued before that removing the "target" organ may not affect a genetic predisposition to cancer.

Anyway, it will be interesting to see what happens with the new knowledge about prostate cancer.

Marie Godfrey, PhD

What's a family history consultation like?

Last month, the winner of a family history contest in Utah, received his prize: a personal consultation with a family history specialist and genealogist. The story, reported by the company providing the service, is copied below, with permission of the authors, Jim and Mary Petty:

Through the Utah Department of Health’s Chronic Disease Genomics Program, Utahns are encouraged “to know your past to benefit your future”. In the words of the Washington Post (February 26, 2002): “The Family Tree has become the most important genetic test of all. The more you know, the more tools you have to practice preventive medicine.” The Genomics program has promoted the goal “Make Family Health History a Tradition” through a variety of initiatives, publications, and even a contest.

In late 2006 they held the statewide “Tell Us Your Story” contest to motivate the citizenry to learn life-saving family health history information for themselves and their family and then share their story with other Utahns. This contest included an incentive for the winners: those who prepared and submitted an account or essay about what they learned about their family health history and how their family has been impacted by their family health history, might get their story in the newspaper, on the radio, Internet, or even on TV, and 10 lucky winners could win a professional genealogy family history research prize!

HEIRLINES Family History and Genealogy, Inc’s President and career professional genealogist, James W. Petty, AG®, CG (SM) (, offered 10 one-hour free consultation sessions (a prize valued @ $150 per winner) at the Family History Library in Salt Lake City, Utah. The success of this unique prize offering is worth sharing.

The first winner of this contest was Eugene, and his wife Rose. Max related how he suffered from a degenerative neurological disorder that restricts his ability to walk. The same condition is in three of his living relatives, and has appeared in his ancestry, first identified with a great grandmother, and an uncle, and other cousins.

Eugene and Rose, and their daughter met with James W. Petty, AG, CG, at the Family History Library in Salt Lake City in the early afternoon of Friday, February 09, 2007, to discuss their family’s interests in Family Health History, and how genealogy research could be conducted to expand their knowledge about their family as well as about the medical affliction that was of such concern to them. Mr. Petty expressed his interest in the situation, but noted very clearly that he was a Professional Genealogy Researcher, and not a medical specialist, or even capable to instruct the family about the medical or scientific aspects of the case, except to offer ideas that could be asked of their medical providers.

The following recommendations were made by Mr. Petty about the genealogy and other issues of concern to the family:

  • The family line in question was on Eugene’s maternal lineage. It was noted that Neurologists treating Eugene, had stated that they did not know the cause of his condition, nor did they even have a name for it. Mr. Petty expressed the opinion that with greater information regarding the extent of the medical condition among Eugene’s extended family, medical science might be able to discover a cause and cure for the affliction. Therefore it was recommended that Eugene’s family, and those willing to work with them, identify all of the descendants of their 3rd Great Grandfather, Thomas, who was the first of the family to settle in Utah with his children. This meant all of the people in the scope of this project would have a Utah origin which would make it easier to find and identify ancestry.
  • Genealogy research in federal, state, local, and church records available at the Family History Library would then help the family identify descendants of their ancestors.
  • Upon identifying the extended family it would be possible to obtain health information about Thomas’s descendants through several sources available to the public. Death records for the State of Utah are now available on the Internet, free of charge at The family can search this site for the deaths of all descendants of their ancestors who died between 1905, when state recorded death records began, and 1954. These records will provide personal and genealogical information, but will also identify the understood cause of death, which might describe a form of the condition that seems prevalent in their family.
  • The next step was to search newspaper obituaries for the State of Utah at either the Family History Library in Salt Lake City, or at the Utah State Archives, or the University of Utah where copies of all newspapers in Utah are available on microfilm. With death dates of ancestors and relatives, obituaries of these people can be seen in the newspapers, which may provide a description of the cause of death (not as commonly found today as it was prior to 1970). This way they may be able to recognize symptoms of the medical condition in other relatives.
  • All of this research would lead the family to discovering living relatives on extended family lines, with whom they could share information and receive information about family health. They might then learn about other relatives with the same medical conditions as they had, and learn additional information that might help their doctors to discover more about their illness.
  • In addition, it was recommended that information about their disease / condition be reported on appropriate Internet message or blog sites. Millions of people across the country read these message boards, and shared discussion of the family’s medical condition might generate discussion with other people experiencing the same condition. This could open up new information that could be shared with the medical specialists who can discover new treatments and cures.

Eugene was very excited about the possibilities this discussion provided him. He recognized that he might not find the cure to his condition in his lifetime, but that his children or grandchildren might genetically carry the condition, and a cure could save them from being bedridden or disabled.

James W. Petty and Heirlines were able to provide guidance regarding family history and genealogy study that would assist these people in discovering their family health history. Neither medical, nor scientific instructions were provided, as Mr. Petty noted that he was not qualified to offer this. However, the professional genealogy information given to the family, did give them encouragement and renewed hope for discovering answers about their family health concerns. They are better prepared to go back to their doctors to work together to find solutions to the disease that has afflicted their family for generations.

Readers will note that I have included the name of the company providing the service--contrary to my usual practice. I am not endorsing this company or its work, just acknowledging the free service they provided.

You can read Eugene's story--and the stories of a number of other people who have had their lives touched by genetics--by clicking on the Your Stories tab at the top of the page. You are also welcome to submit your own story--no names necessary in or after the story, although you will be asked to give us your name and e-mail address so we can confirm that you posted the story and not someone else.

Marie Godfrey, PhD


DNA testing and individual people

If you missed it, you should check out the article that appeared in the New York Times written by Amy Harmon. She titled it: My Genome, Myself: Seeking Clues in DNA. Amy writes in a put-it-down-on-as-it-comes-out-of-your-head style not unlike mine, so of course I enjoyed reading it.  

Amy was given the chance--and she accepted it--to be one of the early participants in the $1000 sales of whole genome analysis being offered online by several companies. In my usual policy of not naming specific companies, I'll let you check her article or use a search engine to find one.

Anyway, once her test was in process, she began to wonder how the results would affect her life:

What if I learned I was likely to die young? Or that I might have passed on a rogue gene to my daughter? And more pragmatically, what if an insurance company or an employer used such information against me in the future?

But three weeks later, I was already somewhat addicted to the daily communion with my genes. (Recurring note to self: was this addiction genetic?) For example, my hands hurt the other day. So naturally, I checked my DNA. Was this the first sign that I had inherited the arthritis that gnarled my paternal grandmother?s hard-working fingers?

Using the resources provided her by the testing company, she began to explore her DNA trying to find answers to her "persistent questions". She soon found, as does everyone who looks at the human genome map, or any result from a testing company, that each question generates more questions. Sometimes, you get answers that include predictions:

I was 23 percent less likely to get Type 2 diabetes than most people. And my chance of being paralyzed by multiple sclerosis, almost nil. I was three times more likely than the average person to get Crohn's disease , but my odds were still less than one in a hundred.

Are probabilities divided or multiplied? If you do all the things that would lower your risk of condition X, condition Y, condition Z will you live 110% of your life expectancy?

She dove into the reams of data, doing what we all might do--ignoring the disclaimers along the way:

Compelled to know, I breezed through the warning screens on the site. There would be no definitive information, I read, and new discoveries might reverse whatever I was told. Even if I learned that my risk for developing a disease was high, there might well be nothing to do about it, and, besides, I should not regard this as a medical diagnosis. [I read on:] If, after considering these points, you still wish to view your results, . . . click here. I clicked.

What would you do if you sent in your DNA, paid the $1000, and then tried to interpret the results?

As I've said many times: before you decide to have genetic testing done, consider what you will do with the results. Until you are ready for any possibility--however good or bad or uncertain--save your money.

Marie Godfrey, PhD 

The art of crafting headlines

Today's Google alert for genetics provides over 30 headlines from online services and newspapers around the world trying to get people to read an article about Kaiser--the big insurance company--and its plans to build a monster DNA database from genetic material donated by 2 million people in Northern California.

As often happens, the headlines vary from the plain facts to the extraordinary promises we often see in the field of genetics:

"Kaiser launches genetics study" is the simple title in, the Washington Post, Business Week, Houston Chronicle and others.

"Decades long study to probe a range of diseases" states WIFE-TV in Indiana, BruneiDirect in New York, and the Asbury Park Press in New Jersey.

Some sources are more direct in how the study impacts people: "Kaiser asks patients to donate DNA" from Therapeutics Daily tells people that--if they are not patients with Kaiser insurance--they will not be asked to donate DNA.

And then we have the sensational: "Kaiser takes on huge study to help cure killer diseases" from KCBS in California, "Kaiser hopes to unravel some of the biggest medical mysteries" from The Money Times in India, and "New Kaiser Permanente research aims to reveal genetic and environmental causes deadly and disabling diseases" from

So, which would you read, if any? And, would you believe 50,000 people or 2 million--both of which appear in news articles.

As a geneticist, I'm thrilled that such work is progressing and will not take money from genetic research funded by NIH or other publicy funded organizations. If I were an optimist, I would imagine all kinds of new and important information about the links between genetics and the environment. The landmark Framingham heart study has added greatly to our knowledge on heart conditions--including the extraordinary idea that women and men are treated differenly when they have a heart condition.

But, as many of you know, I tend to be a pessimist. I look at the "what-ifs" and the potentially detrimental implications of work of this type, such as:

Discrimination against people with "bad" genes or "bad" habits--in insurance and on the job and possibly elsewhere

The release of genetic information from tens of thousands when someone has their laptop stolen with subject data

The remarkable conclusion that genes and the environment interact in determining our health--at the cost of possibly higher insurance premiums across the country

Enough, enough. Such studies are inevitable and your DNA profile will soon be as private as your fingerprint before long. Someone's going to do the DNA studies; it might as well be a company that also holds lots of medical information.  Can you remember how important the 10-year census is to your life? Well, it will go on no matter what you and your POSLQ wish.

As you read about the Kaiser plan--and I hope you do--form your own opinions. And then, post them as comments to this blog. While you're at it, do you live in Northern California or have any relatives that do? Or have you ever been treated in a Kaiser facility? Hmmmm, maybe you're more involved than you thought.

Marie Godfrey, PhD


What kinds of genetic tests are available?

There are around 1000 genetic tests currently available; a few of these are marketed directly to consumers. In general, these consumer genetic tests fall into four categories: Paternity, Lineage/Ethnicity, Disease, and Nutrigenomic.

Paternity tests can determine whether one person is related to another person. The most common application of this test is in a paternity dispute. Paternity tests are the most common genetic test sold by online companies. The reason this test is the most popular is because the test itself only costs the customer around $199, and the results are 99.9% accurate. From the perspective of the laboratory, the test is easy to perform, which means they can offer it at a low price. One important aspect of this test is that it does not sequence the customer's DNA directly. It analyzes regions of DNA that do not code for proteins, and thus no medical information can be gleaned from the results of a paternity test.

Lineage and Ethnicity tests are also sold by online companies. These tests trace the ancestry of the customer by analyzing specific genes that have been traced to specific lines of human ancestry. As with paternity tests, no medical information is contained in the results.

Disease tests, on the other hand, are designed to identify specific mutations which are known to cause a certain disease. Several disease tests are available online, which can screen for diseases such as breast cancer, alpha1-antitrypsin disorder, and Hemochromatosis. One important question with these tests is whether they accurately predict the incidence of disease.

Nutrigenomic tests look at genes involved in the everyday operation of the body. Mutations in these genes can result in proteins which function less effectively than normal. In some cases, dietary changes can counteract these defects. For example, a person might have an enzyme that doesn't break down glucose fast enough, leading to high blood sugar level. This information might enable the person to better manage their intake of sugar. There are testing packages for many physiological functions such as bone health, glucose utilization, and stress. The usefulness of nutrigenomic testing depends on whether the effects of the mutations possessed by the individual can actually be reversed through diet or lifestyle changes.

Genetic tests are very accurate if properly administered. However, accuracy is not the only important factor to consider. A highly accurate disease test can show the incidence of a particular mutation, but the predictive value of a test result varies depending on many factors. For example, if a person receives a positive result for a mutation on the BRCA1 gene, this does not necessarily mean that the person has breast cancer. It merely signifies an increased risk of developing breast cancer. Other factors such as ethnicity, lifestyle, and hormone balance, may also play a role in determining whether or not the gene actually leads to the disease state. Although the test may accurately show the presence of mutations, these mutations are usually not the sole determinants of disease. Some disease tests are like this, while others have a higher predictive value. It depends on the disease and the person. Nutrigenomic tests must be interpreted in the same manner. Paternity and lineage tests, on the other hand, are highly accurate simply because there are no other factors. Their predictive value is 99.9%.

A genetic test that can detect whether heart transplant patients are rejecting their donated heart

HealthDay News reported about a simple blood test that can detect whether heart transplant patients are rejecting their donated heart. These patients have an average risk of 3 percent to 5 percent for moderate/severe rejection, and must be monitored for rejection for the rest of their lives. For decades, the heart-muscle biopsy was the most reliable method for detecting rejection. This test may reduce the need for invasive heart-muscle biopsies.

The study by New York-Presbyterian Hospital and Columbia University Medical Center analyzed data from patients in the four-year Cardiac Allograft Rejection Gene Expression Observational Study (CARGO), conducted at eight U.S. transplant centers.

The study looked at a gene expression test called AlloMapT molecular expression testing, which provides information about 20 genes representing molecular pathways in white blood cells found to be associated with heart transplant rejection, as well as information about control genes.

The researchers found that the AlloMap test appeared able to distinguish heart transplant patients who were rejecting their new heart from patients who weren't. The study found that patients with a low AlloMap score had less than 1 percent chance of rejection.

New York-Presbyterian/Columbia will begin offering AlloMap testing to patients on Jan. 1, 2006.

Marie Godfrey, PhD


Breast cancer and tamoxifen

A number of genetic tests are available for breast cancer-related genes, and recent news suggests another test could predict responses to tamoxifen. More than 210,000 women in the United States will develop breast cancer. Approximately 70 percent of these cancers are fueled by estrogen, many of which are treated with tamoxifen, a drug designed to block the effects of estrogen in breast tissue. Some women take tamoxifen as a preventative measure against breast cancer.

An enzyme known as CYP2D6 is “responsible for activating tamoxifen to a metabolite called endoxifen that is nearly 100 times more potent as an anti-estrogen than tamoxifen itself,” says James Rae, PhD, research assistant professor of internal medicine at the University of Michigan Medical School. A study of 256 women with breast cancer “suggests that women who inherit a genetic variant in the CYP2D6 gene appear to be at higher risk of relapse when treated with five years of tamoxifen.” Women with this genetic variant (about 10 percent of women) were almost twice as likely to see their breast cancer return.

As always, further studies are needed, but researchers hope this finding may lead to a genetic test--not currently offered clinically. Research is being conducted by the members of the Pharmacogenetics Research Network to confirm whether genetic testing can be used to identify patients likely to respond to endocrine therapy, including tamoxifen. This group is led by David A Flockhart, MD, PhD at Indiana University School of Medicine.

One interesting sidenote in the study was that researchers also found that women with the CYP2D6 variant were less likely to have hot flashes. Any hot flashes among this group tended to be less severe, suggesting that this side effect could predict the gene variation. Ironically, Paxil--a selective serotonin reuptake inhibitors or SSRI used to treat hot flashes--can prevent tamoxifen from being activated. Effexor, another SSRI, does not interfere with tamoxifen’s activation. So, women with breast cancer and hot flashes or depression (SSRIs are also used to treat depression) might be well-advised to confer with their physician on possible drug interactions.

Their findings are published in the Dec. 20 issue of The Journal of Clinical Oncology and were reported by Breast Cancer News online (31 Dec 2005).

Marie Godfrey, PhD

Does ovary removal prevent cancer in women with a BRCA1 or BRCA2 mutation?

The numbers and statistics in the following blog entry are almost guaranteed to confuse you.

The article under discussion here, in the Journal of the American Medical Association, is titled: "Salpingo-oophorectomy and the Risk of Ovarian, Fallopian Tube, and Peritoneal Cancers in Women With a BRCA1 or BRCA2 Mutation." It appears in volume 296, pages 185-192. The original article is available only by subscription or from the authors. Information here comes from the abstract. Definitions are at the end of this entry if you need them.

The authors conclude:

Oophorectomy is associated with reduced risk of ovarian and fallopian tube cancer in high-risk women, although there is a substantial residual risk for peritoneal cancer in BRCA1 and BRCA2 mutation carriers following prophylactic salpingo-oophorectomy.

They also state, in the results:

The overall (adjusted) reduction in cancer risk associated with bilateral oophorectomy is 80% (multivariate hazard ratio = 0.20; 95% confidence interval, 0.07-0.58; P = .003).

O.K., so, according to this article, if you have one of the BRCA mutations, and you have your ovaries and fallopian tubes removed, you can still get ovarian or fallopian tube cancer [???]. You are also still at risk for peritoneal cancer. The 80% reduction in cancer risk sounds pretty good, though. If I hadn't already had my ovaries removed (they didn't tell me whether they removed the fallopian tubes), I'd probably consider this surgery if I were found to have the BRCA1 or BRCA2 mutation.

But what do the study numbers tell us?

1. The study was retrospective--1828 patients with BRCA1 BRCA2 gene were identified from an international registry between 1992 and 2003. Because it is only 2006, it is possible that women identified for the study will develop cancer (or die) in the future--only these occurrences in the past were considered in the analysis of the results. We do not know what will happen to the current "survivors". Also, the abstract doesn't identify how many women were "lost to follow-up" (that is, have data only for part of the study period).

[By the way, those of you worried about genetic privacy, do you wonder what this international registry is and where it gets its data? I certainly do.]

2. The data for the women were first split into those who had no oophorectomy 783/1828 (43%) and those who did: 555 (30%) prior to the study period and 490 (27%) during the study period. O.K. 43 + 30 + 37 = 100%; so far, so good.

3. By the end of the study period, 32 of the 783 women who had not undergone surgery developed cancers [the abstract doesn't say what type, but ovarian, fallopian tube, or peritoneal is implied]. This is reported, not as 32/783 (4.1%), but as 1015/100 000 per year.

4. Of the women who had undergone surgery, eleven cancer cases were identified at the time of prophylactic oophorectomy and 7 were diagnosed following prophylactic oophorectomy. This is reported in the abstract as 217/100 000 per year. The fraction 18/1045 (11 + 7 = 18 and 555 + 490 = 1045) is 1.7%.

5. If you compared 4.1% with 1.7% (over the short course of the study), you might say that among women with a BRCA1 or BRCA2 mutation, those who had no surgery (oophorectomy) were 2.4 times as likely to develop cancer compared with women who had prophylactic (pre-emptive) surgery (4.1 divided by 1.7). [Note that the wording is "as likely", not "more likely".]

6. If you compared the per-year numbers 1015 vs. 217, you could say 5 times as likely (1015 divided by 217).

7. If you did a "survival analysis" [as the authors did], you would find "The overall (adjusted) reduction in cancer risk associated with bilateral oophorectomy is 80% (multivariate hazard ratio = 0.20; 95% confidence interval, 0.07-0.58; P = .003)."

So, which is the "real" number?

Just one more set of numbers: Only about 5-8% of women have a mutation in the BRCA1 or BRCA2 genes. Many sources report that mutations of the BRCA1 and BRCA2 genes give women a higher risk of developing ovarian cancer (15 percent to 54 percent), than women without the mutation.

So . . . do you have a test for BRCA1 and BRCA2? . If you find out you have one or more mutations in these genes, do you have the removal surgery? If so, have you now eliminated your chances of having ovarian, fallopian tube, or peritoneal cancer? The answer is, No.

The purpose of spouting all these numbers is to help you understand that news articles select the numbers that seem simplest to them; the deeper you dig, the more likely you are to wonder about the validity and practicality of those numbers.

Marie Godfrey, PhD

Definitions: Salpingo-oophorectomy--removal of ovaries and fallopian tubes. Peritoneal-- the peritoneum is a membrane that forms a sort of envelope around your abdominal organs and also lines your abdominal cavity

Genetic testing and breast cancer

Many other women who are related are learning, thanks to genetic testing, that they share a strong potential for being hit with breast or ovarian cancer in their future. Some of these women are choosing mastectomies, ovarectomies, and hysterectomies to remove the potentially susceptible tissue and dramatically reduce their chances of having cancer of the breast, ovary, or uterus.

One recent story from the Associated Press, published at, described Mindy Diamond-Rivera, a 47-year -old woman in Arizona who had her breasts removed and "is ready to get rid of her ovaries and uterus." Last September, she learned that her chances of breast cancer were 87%--a striking confirmation of the family history she's been afraid of since her mother, grandmother, and great-grandmother all died of breast cancer before 43. Taking no further chances, she had her breasts removed last November. Because having the BRCA-1 gene also predicts that her chances of having ovarian cancer are 60%, she intends to have her ovaries removed--and her uterus. "Everything's coming out", she says. According to the article, "Her insurance has covered almost everything so far. Most insurance companies cover about 80 percent of the genetic testing, said genetic counselor Jessica Ray [of the High-Risk Breast and Ovarian Cancer Clinic at the Arizona Cancer Center]. The cost of the test without insurance is $2,975."

New test available for sensitivity to a colon cancer treatment

According to news from The Mayo Clinic, a genetic screening test that can determine which patients are likely to have a serious adverse reaction to Camptosar® (irinotecan hydrochloride), a key component of standard first-line therapy for advanced colon and rectal cancers. An article at describes the details.

According to Mayo Clinic medical oncologist Matthew Goetz, M.D. who was quoted in the article, "Irinotecan is an important treatment approved by the FDA for patients with colon and rectal cancers, but its side effects can be dangerous or even lethal in up to 30 percent of the population." The UGT1A1 test--which looks for a mutation in the gene that helps a patient metabolize irinotecan, was approved by the FDA in August; licensing agreements have just been finalized. If a patient has the mutated gene, dosing of irinotecan would have to be reduced or even eliminated to avoid serious side effects.

According to the article, "This kind of customized dosing approach based on a person's genetic makeup is known as pharmacogenomics and is the newest frontier of 21st century medicine." Dr. Goetz adds that the application of this test for patients with colon and rectal cancer may only be the beginning. "Irinotecan also is being tested and used for other cancers, such as cancers of the GI tract, as well as lung and breast carcinoma,"

Because the UGT1A1 pathway is also important in the metabolism of other drugs, the test may be useful for managing potentially serious side effects of some other drugs also. The test kits are available from the Mayo Clinic, through your physician or other healthcare provider. The test is not being sold directly to consumers.

Marie Godfrey, PhD




Predictive genetic testing and cancer

Predictive genetic testing may help identify people who are at an increased risk for developing certain types of cancer. While this type of testing may indicate the absence or presence of a gene thought to be associated with a specific cancer (for example, the BRCA1 gene and one form of breast cancer), testing also carries many limitations and risks. Before undergoing genetic testing, you need to fully understand the process and its implications. here are some items to consider.

An accurate test may produce a positive, negative, or ambiguous result, but it cannot guarantee that a person will or will not develop cancer. As thorough a knowledge as possible of family history is perhaps the most important part of any genetic test. However, people with no information on their potential cancer ancestry can still learn some things from genetic testing. In the latter case, a person's pertinent genetic makeup can be compared to others in the general population or with similar ethnic ancestry.

Many experts recommend undergoing genetic testing only when a pedigree analysis suggests the presence of an inherited cancer syndrome for which a specific mutation has been identified. Other guidelines suggest that genetic testing should be pursued only when the test will impact future medical care and decisions.

Besides family history, another important element of genetic testing is the assistance of a genetic counselor. Generally, your family doctor has neither the knowledge nor the time to provide all the assistance you may need. Your doctor may, however, be able to help you find a counselor and arrange for testing and support.

Marie Godfrey, PhD 


Tests related to colon cancer

There are three basic tests that I know of, in addition to at least three types of examinations.

1. Hemoccult test--this one has been around for a while. It is a take-home test, sometimes availale from your pharmacist or the American Cancer Society. The test is free. The test kit consists of three pieces of filter paper, on which you smear three small stool samples, taken at different times. You send the kit in for analysis and receive results by mail. The test looks for occult (hidden) blood, which may have come from a cancer in the colon. Since there are a number of other reasons to have blood in your stool (hemorroids for example). A positive test result simply means there is more testing to do.

2. The test I described a couple of days ago is a genetic test for the existance of cancer. Some colon cancers are associated with one or more of three genetic mutations. The test, which you can purchase over the Internet, looks for these mutations in cells within a stool sample. I believe the test is quite expensive. If you think you'd like to try this test, I would recommend consulting a physician. Insurance is more likely to cover the test that way.

3. Another test is a predictive test: do you have the genetic mutation that results in more frequent polyp formation in the colon? Approximately 5-10 percent of colon cancers are associated with this mutation and as many as 80 percent of people with this mutation may develop colon cancer. This test is also available over the Internet, but I recommend a physician's support is here also.

Then, there are the "physical" exams: sigmoidoscopy and colonoscopy. In both cases, the preparation for the exams is worse than the exam itself. If you are over 50, you should have the colonoscopy at least every 10 years, more often if you have a tendency to form polyps or a family history of forming polyps. A sigmoidoscopy is generally less extensive than a colonoscopy; to me there's no logical reason to do the lesser of the exams. I believe it was more popular when exams were done without a sedative and were often painful. The colonoscopy is performed when you are sedated and the physician performing the exam can take photographs/videos for comparison with later tests. If polyps are found during the exam, they can be removed and tested for malignancy. The prep? You have to clean out the colon for the examination. This means drinking a fluid to stimulate evacuation and staying near a bathroom.

The third test is a "virtual" colonoscopy. I believe it involves getting a miniature camera into the colon--by swallowing a gelatin-coated pill--and then picking up the transmissions from the camera. I'll have to check this one out further, because I haven't heard much about it lately, and don't know if it's still being used, and if it is, how the whole process works.

To learn more about any of these tests, check out the American Cancer Society's site. Remember that the organization is somewhat conservative and generaly recommends only the most tested exams, not listing newly developed tests or exams until they have been clearly shown to benefit people.

If you have a specific question about a test or exam, or about the genetics of colon cancer, please use the comment mode to ask your question. You do not have to give your name.

Marie Godfrey, PhD

What is the difference between a genetic test ordered by a consumer and a test ordered through a doctor?

The convenience of ordering a genetic test via the Internet may seem tempting, but at the current time there are a lot of unknowns. Consulting with a healthcare professional has many advantages. For example, a patient may believe they should take a test even though there is no evidence of disease. In this situation, a doctor could prevent the patient from wasting a significant amount of money on a genetic test they don't need.

In addition, an online testing company does not require proof of identification when doing a genetic test. As a result, a customer could send in another person's DNA sample raising privacy concerns. Doctor involvement allows for better privacy protections by ensuring that your DNA falls under the Health Information Privacy Protection Act (HIPPA), not the jursidiction of a lab that resides in a state with unknown consumer privacy laws.

A health care professional can also help with interpreting the test results and understanding the limitations of genetic testing. It's likely that if a physician or a genetic counselor is not part of that process, you won't be getting the best care possible.

Suggested reading: Too Much Information: Results of Home DNA Tests Can Shock, Misinform Some Users



What is the impact of genetic testing on privacy?

"Genetic testing appears to exist in a regulatory vacuum," according to the policy director of the Genetics and Public Policy Center at Johns Hopkins. Because of the difficulty of performing and interpreting genetic tests, the labs which perform the approximately 1,000 tests currently available are not well (if at all) regulated at either the Federal or state level. Indeed, almost none have been reviewed by any government agency to ensure they do what they say they do. The FTC (Federal Trade Commission) regulates how genetic tests are advertised to consumers but none have been enforced yet with respect to the advertising of genetic tests. The FDA (Food and Drug Administration) regulates genetic test kits, but, according to Javitt, most gene testing labs develop their own in-house methods that are not currently reviewed by FDA. Even laboratories certified by CLIA (Clinical Laboratory Improvement Amendments) which covers basic and generic lab practice issues, does not provide information that is relevant to disease or future disease or condition.

With regard to privacy, there is no comprehensive federal protection in place. At the state level, privacy/discrimination legislation is variable, at best. For example, a consumer in Oregon purchases a genetic test from DNADirect (an online vendor based in San Francisco, CA). The consumer sends in their DNA sample to be tested. As soon as the sample leaves the state it is no longer protected under Oregon's genetic privacy laws. DNADirect sends the sample to Myriad Genetics, a laboratory in New Mexico, for testing. Since New Mexico currently does not have specific laws protecting the privacy of genetic information--and since the sample is no longer under Oregon jurisdiction--maintaining the privacy of the sample (and the donor) may be at-risk. At the present time, several other U.S. genetic testing labs, notably, Florida, California, and Ohio, also have no legislation which speaks directlly to protecting the privacy of genetic information.

For all of the above reasons, raising your awareness and understanding of the regulatory state of genetics and genetic testing in your state is important.

Consumer Considerations:

  • Genetic tests ordered through a doctor provide for better privacy protection.
  • Increasing the circulation of genetic and other health information through unregulated channels may increase the potential for unwarranted invasions of privacy and genetic discrimination.
  • Policymakers have been slow to enact blanket genetic privacy protections and the protections currently in place provide no solid protection for individuals.

How safe is your genetic information?

If you choose to have a genetic test purchased online from one of the many companies offering them, you may be concerned about the privacy of your genetic information. Check the website and the information you receive to learn what the company's policies are.

If, on the other hand, your genetic information is becoming part of a database covered by HIPAA (Health Insurance Portability and Accountability Act), you may be interested in how secure your information is when "protected" by the federal government. The Washington Post, in an article today titled "Medical Privacy Law Nets No Fines" starts this way:

In the three years since Americans gained federal protection for their private medical information, the Bush administration has received thousands of complaints alleging violations but has not imposed a single civil fine and has prosecuted just two criminal cases.

Of the 19,420 grievances lodged so far, the most common allegations have been that personal medical details were wrongly revealed, information was poorly protected, more details were disclosed than necessary, proper authorization was not obtained or patients were frustrated getting their own records.

More than 14,000 of the cases are considered "closed", either because no violation was found, or the group accused of violation (hospital or physican, for example) agreed to fix the problem. No one's watching, though, to see they do.

According to the article,

At least 309 possible criminal violations to the Justice Department. Officials there would not comment on the status of those cases other than to say they would have been sent to offices of U.S. attorneys or the FBI for investigation. Two cases have resulted in criminal charges: A Seattle man was sentenced to 16 months in prison in 2004 for stealing credit card information from a cancer patient, and a Texas woman was convicted in March of selling an FBI agent's medical records.

Advocates for personal privacy suggest that "the lack of civil fines has sent a clear message that health organizations have little to fear if they violate HIPAA."

To read more, check out the article at

Marie Godfrey, PhD

Privacy of medical information threatened

I haven't been watching the House and Senate daily since stem cells were dropped from the agenda, but today I was reminded that's not a good thing to do. While you're not looking, Congress may slip something through you had no idea about.

This time it could be the privacy of your personal medical information (including results of genetic testing).

I received a notice from the Ethics and Health Law daily newsletter, which happens to come from Australia. The lead-in said: "Congress has latched onto legislation to create a national health information system: the Health Information Technology Promotion Act of 2005 (HR 4157)." and the source was given as Medical News today, 11 February 2006 (

Oddly enough, the bill in question was introduced in October of last year; it didn't reach the news, but did catch the eye of the Citizens' Council on Health Care (CCHC). According to the article,

"This bill gives the federal government complete control over private medical data. It advances a national health surveillance system - a system where the patient's data is shared, assessed, analyzed, collected, and used without the patient's consent or knowledge," said Twila Brase, president of CCHC.

She clarified, "If this bill passes, there will be no virtually no escape for the public. The so-called federal medical privacy rule (HIPAA) eliminated patient consent requirements. This bill allows the federal government to gut stronger state privacy laws. Together they will lead to the end of personal and medical privacy for all American citizens." 

CCHC has published a chart, including analysis of the bill language and implications for the public if HR 4157 passes, click here to see it.

If you're interested in the privacy of your medical information, you may want to check this out. At the moment, the bill is still in committee.

Marie Godfrey, PhD

What is the role of the primary care physician in regards to genetic testing?

Members of the general public have historically turned to their primary care physicians with questions about inheritable conditions. As the availablility of genetic tests increases and direct-to-consumer advertising of genetic tests becomes more pervasive, family physicians should expect:

  • an increase in the number of requests for genetic tests from their patients;
  • an increase in the usage of genetic tests for health care planning and decision making;
  • an increase in the number of patients who order and interpret genetic tests without consulting their doctor

Today’s family physicians need to know not just about the availability and reliability of specific genetic tests but also to understand the implications of their use. These will include:

  • genetic testing for untreatable conditions;
  • requests for prenatal diagnosis of adult-onset inherited conditions;
  • when to test and who should pay;
  • misperceptions about genetic privacy, informed consent, use of health information records and DNA (tissue samples);
  • the ability of Federal and state statutes to protect patients from possible insurance and/or workplace discrimination;
  • implications of genetic testing for the families;
  • doctors must help patients make difficult treatment decisions based on incomplete or uncertain information about future conditions.

Strategies to help patients understand risk

Here's where to find the article on "Strategies to help patients understand risks":

You will have to download the pdf (Adobe) file.

Ancestry searches--do we only go for "far enough"?

Sometimes I wonder what people are thinking when they decide to research their ancestry. Is the goal finding someone important? Validating family stories? Proving connections to a particular "race"?

In the recent Newsweek article and the program on PBS, African-Americans, at least one person received different information about their ancestors than they were expecting. Most notable to me was the "Black man" who found he had no African heritage at all. A person whose letter was published in this week's Newsweek asked why nothing was said about repeating the surprised man's tests. That means that several others noticed that none of the presentations spoke about possible incorrect results.

Also interesting was the person who suddenly started wearing a Star of David upon learning of his Jewish heritage. This certainly suggests that some people change their behavior as a result of genetic testing--regardless of the accuracy of those tests. The common test sold in grocery and variety stores--the one that comes from Sciona--was featured several years ago in GeneWatch as a dubious product. Of course, the producers of Newsweek and PBS didn't identify the companies that did the tests. And we probably wouldn't have wanted that, considering the benefits of such free advertising.

Anyway, back to my main idea. What makes people trace their ancestry with a genetic test and when in the process do they stop? Anthropology and archealogy would both say that going "all the way back" brings us to an origin in Africa. But, many people stop once they've connected with a solid European (especially Western) heritage. If genetic tests are so good at telling people where they came from, how come they're comparing your DNA to someone's DNA collected in the past 10 years or so? Do we think that genetic changes occur worldwide and through time but can be ignored when the results say we're part of a group living today? Sounds a bit inconsistent to me.

By the way, just as with the chimpanzees, the differences between so-called races (or between chimps and humans) are many-fold smaller than the differences between two "Western European Caucasians" (or humans or chimps). Isn't amazing how we weight visible differences or even non-obvious differences (such as native language) much more than we do invisible factors?

Marie Godfrey, PhD

Genetic testing and family relationships

A public television special on African-Americans included some small pieces on genetic testing as it is used to test family relationships. The Feb 6 issue of Newsweek has more and presents some visual aids. In addition, a live talk featured Claudia Kalb answering questions about genetic testing. Of the three, the Kalb live talk was the only one allowing public participation. Since I thought some of you might be interested, I am attaching a copy of Kalb's transcript here. Among other things, it gives us an idea of why people are so interested in genetic testing.  Note that the genetic testing discussed focuses only on family interrelationships and not on diseases or conditions with genetic components.

Marie Godfrey, PhD

Can the results of a genetic test be used to deny insurance coverage?

Although most states (47) have laws in place prohibiting the use of genetic information in denying health insurance coverage, these laws do not generally apply to self-insured people or to companies with fewer than 50 employees. On the other side of the picture—insurance coverage of genetic testing—state laws focus primarily on state-mandated testing of newborns. According to Alissa Johnson of the National Conference of State Legislatures, “no state requires health insurance coverage of genetic testing for adult onset disorders, such as breast cancer, which may cost more than a thousand dollars.”

She suggests that legislators investigate the benefits of genetic screening and the potential benefit to individuals or families being tested. Addressing the inequalities in ability to pay for genetic testing, she states that “affordable access to these services may still be in the distant future.”

Aetna Chairman and CEO John W. Rowe, M.D., in a speech several years ago, recommended that the health insurance industry support legislation and consider adopting guidelines for access to genetic counseling and genetic testing. He suggested the following approaches:  

  • Cover genetic testing in individuals shown to be at risk where results may affect the course of treatment of the insured.
  • Cover genetic testing for a family member where the family member is not otherwise insured, and results may affect the course of treatment of an at-risk insured.
  • Cover consultation with qualified counselors and physicians, and facilitate the appropriate interpretation of genetic testing results.
  • Support physician education in the appropriate interpretation and use of genetic tests, including guidance in selection of medication (pharmacogenetics).

Sources: and

Marie Godfrey, PhD 

Can the true nature of race be revealed through genetic testing?

The text below comes verbatim from an excellent article I received through my genetic testing Google alerts. You can find the original at Genetic Drift: The True Nature of Race Colorlines, News Report, Ziba Kashef, Posted: Nov 11, 2007 Ever since scientists discovered “the secret of life” embedded in our DNA a half century ago, the study of human genes has sparked debate about the nature of race. The question seemed to be settled in the early 1970s when biologist Richard Lewontin compared variations in genes within and among different population groups. His conclusion, that most human genetic variation did not fall along racial lines, was widely accepted. At the molecular level, human beings are more alike than different. Repeat experiments confirmed this finding, and many experts embraced the knowledge that the racial categories that have long divided people and justified racist oppression represented social and political beliefs rather than biological truths. But the notion that race is real as a biological fact did not die. Even after research teams who identified and sequenced all 20,000-25,000 genes as part of the historic Human Genome Project declared in 2000 that race was not a valid scientific concept, the counterclaim resurfaced. Ironically, the more science has delved into the intricacies of our DNA, the more experts have diverged on the question of race. The dispute, which reverberates mostly in the pages of academic journals and in the halls of some of our most prestigious institutions, could have negative repercussions in the real world for communities of color. From criminal justice to medical research and genealogy, the lack of clarity on the true nature of race poses risks, including the risk that, as a society, we might start believing in essentialist notions of race again. While acknowledging that science is often used for positive purposes, including ones that benefit communities of color, social justice advocates must remain vigilant. All technologies, including new genetic technologies, develop in a political, economic and social context, says Patricia Berne of the Center for Genetics and Society, a public affairs nonprofit based in Oakland, California. “The broader political left has not really grappled with the ways these technologies affect our claim to resources, our claim to rights, and the well-being of our communities,” she notes. Before race is resurrected and redefined by biologists, geneticists and biotech firms, social justice advocates must grapple with the issues and add their voices to the debate. FORENSICS This spring, the New York Times published a startling article entitled “The DNA 200,” a brief piece with a collection of thumbnail-size photos of former inmates who had been released on the basis of DNA evidence. A quick survey of the images was compelling—most of the faces were Black and brown men who had spent an average of 12 years behind bars for crimes they had not committed. Each face and each exonerated individual represented a victory for the Innocence Project, an 18-year-old legal advocacy group that works to reopen old cases and change lives with the help of DNA evidence. For these men, DNA analysis helped prove, without a shadow of doubt, that genetic material uncovered at a crime scene did not match their own. Science was an instrument of justice. But just as easily, DNA can be turned into a high-tech tool for racial profiling, although on shakier scientific grounds. It led to the 2004 conviction of an African American suspected of multiple serial murders in Baton Rouge, Louisiana. Initially, police sought a white suspect, based on eyewitness testimony and the assumption that most serial killers are Caucasian. But the case took a turn when a technology firm, DNA Print Genomics, offered to analyze the sample from the crime scene. Their test concluded that the suspect was “85 percent sub-Saharan African and 15 percent Native American” and therefore medium- to dark-skinned black, not white. It appeared to match a sample given to police voluntarily by Derrick Todd Lee, a man with a history of legal troubles. Lee’s conviction and death sentence were based in part on a method that critics say is at best a prediction of geographical ancestry—not a 100-percent certainty. The stockpiling of DNA samples from suspects and convicts has become the norm in many states. Even the liberal governor of New York, Eliot Spitzer, recently proposed expanding the DNA database there to include individuals convicted of misdemeanors such as minor drug violations and unlawful credit card use. Virginia also collects the DNA of nonviolent offenders, and Louisiana requires samples from those who are simply arrested for a felony. Previously, DNA had been collected only from those found guilty of the worst crimes. Spitzer’s proposal is supposed to make it easier for prosecutors to lock up more criminals and for the wrongly accused to prove their innocence. But given the racially biased arrest and conviction patterns of New York and other states across the country, the consequences are likely to disadvantage people of color. As databases mushroom, the development of genetic racial profiles may be the next wave in law enforcement. DNAPrint claims the ability to use DNA to “predict” physical features such as skin and eye color, adding more and more detail to a genetic sketch. Their web site boasts 100 percent accuracy in blind, company-administered tests. But one critic pointed out that since the test that identified the Baton Rouge killer estimated the percentage of ancestry from four groups that mostly include dark-skinned individuals (sub-Saharan Africans, East Asians, Indo-Europeans, Native Americans), any prediction would inevitably fall into one or more of those ethnic groups. The company provides a separate screening test for additional groups, such as Northwestern and Southeastern Europeans, Middle Eastern and South Asian, but less commonly. Such racialized forensics presents multiple problems for people of color. It blurs the line between DNA tests that can definitively rule out suspects (as in the Innocence Project) and less certain analyses that “predict” or state the probability of a match. It gives scientific legitimacy to the widespread but still controversial notion that certain genetic differences, or markers, correlate precisely with geographic regions and modern racial categories. Further, it makes acceptable manhunts for “ancestry informative markers,” a euphemism for racial identifiers in genes despite the many pitfalls of old-fashioned racial profiling. Worse still, it creates a market for a growing list of genetic services that may, at best, be good guesses but not definitive. Critics fear that such questionable science in criminal justice will inevitably lead to searches for gene markers for criminal behavior. If criminologists start with a database that is disproportionately Black and Latino because of police practices that target those communities, any computer-generated findings will be skewed. “What you’re dealing with is a population in the database which is distorted,” says Troy Duster, a sociologist and chancellor’s professor at UC Berkeley. “So if someone wants to do this kind of research, they’ll look for genetic markers. What they’ll find, of course, are certain markers. Tell the program to find markers and you can find markers in DNA that may be more or less likely to appear in populations A, B or C. But it will be a huge mistake to conclude that because you have those markers you’ve explained crime.” The ever-expanding databases give law enforcement a powerful, high-tech tool. With each DNA sample, government seizes personal biographical information, stripping citizens of their privacy rights. Since each sample offers clues not only about individuals but their relatives as well, entire families are open to scrutiny. In some cases, once a DNA sample is taken it is not destroyed or returned but stored indefinitely, unless the law in a particular state stipulates otherwise. MEDICAL RESEARCH Genetic science is similarly double-edged in the realm of health research. As scientists were busy mapping the human genome in the early ‘90s, for the first time the government moved to mandate that all federally funded biomedical and behavioral research include members of historically excluded groups: minorities and women. After decades of research on mostly white, male subjects, this development—pushed both by Black politicians and women scientists—was generally hailed as an advancement. Documenting health disparities is indeed an imperative, given the much higher rates of disease and mortality from disease among ethnic minority groups in the United States. But the mandate had at least a few notable detractors. As it was to take effect, a handful of African American scientists voiced opposition, according to Duana Fullwiley of Harvard, who recently published “The Molecularization of Race” in the journal Science as Culture. Dissenter Otis Brawley, formerly at the National Cancer Institute, wrote: “The legislation’s emphasis on potential racial differences fosters the racism that its creators want to abrogate by establishing government-sponsored research on the basis of the belief that there are significant biological differences among the races.” But by the time Brawley and others registered their complaint, the train had already left the station. The use of racial categories in applications for research funding and reporting of results had become the accepted norm. Paradoxically, as the Human Genome Project discredited the use of race in science, the pharmaceutical industry moved in the opposite direction, according to Fullwiley. Instead of focusing on the 99.9 percent overlap in all human genes, the Pharmacogenetics Research Network, a government funded follow-up to the Genome Project, honed in on the 0.01 percent difference as a source of the new discoveries and therapies. And several scientists and researchers sought further funding for investigations into possible genetic causes for racial disparities in disease and drug responses. Their faulty reasoning, however, is illustrated by the controversial race drug BiDil. Developed to address the greater mortality from heart failure among African Americans, the drug has been met with both celebration and skepticism. While it is true that Blacks ages 45 to 64 are more than twice as likely to die from heart failure than whites, Duster points out that the disparity narrows after age 65. The disparity may have less to do with biology and race than other documented factors in heart disease, such as diet, stress and lifestyle. Evidence outside of the U.S. also undermines the rationale for a race-based approach to the condition. Citing the data of epidemiologist Richard S. Cooper, who compared hypertension rates worldwide, Duster explains, “Germany has the highest rate of hypertension, and Nigeria has the lowest rate. It doesn’t take a Ph.D. in epidemiology to figure out what might be the issue there. It can’t be race and genetics.” Scientists do, of course, acknowledge the influence of environment and lifestyle on disease and disparities. The laser-like focus on, and blind faith in, genes as the source of understanding and treating disease has been tempered by technical challenges and other trends in medicine. But the damage to our society’s understanding of race may be done. As federal dollars continue to flow to research on the genetic basis for certain racial disparities—in diabetes, asthma, alcoholism and other conditions—race as a biological fact becomes more solidified in public consciousness, and the socioeconomic factors in disease get obscured. “It takes the issue in a crude way and focuses it on what’s going on inside the body,” says Duster. “[But] if you say, well, maybe there is a complex interaction between environment and disease, then the answer is going to be primarily outside the body.” Even if more race-specific medicines and therapies are developed from pharmacogenetic research, it’s unclear whether those treatments will actually alleviate disparities. Most diseases that disproportionately afflict African Americans and other ethnic groups—heart disease, cancer, diabetes—are not caused primarily by single genes or even clusters of genes. Even in cases where illness is linked to specific genes, like sickle cell disease, no miracle cures are forthcoming. With less access to health insurance and health care, people of color may not have access to new treatments or the personalized medicine that remains the goal of many genetic scientists. GENEALOGY Another area where genetics and race collide is genealogy. Curiosity about our origins has motivated countless Americans, including people of color, to have their DNA tested and compared with samples from around the world. Dozens of companies have met the demand with genealogy services that charge a fee for collecting samples, analyzing results and providing answers to questions about family history. In a famous case, the descendants of Sally Hemings, who as a slave had a relationship and son with Thomas Jefferson, used DNA testing to prove they were indeed related to the Founding Father, despite denials from Jefferson’s white descendants. More recently, media mogul Oprah Winfrey declared that a DNA test had shown that she was Zulu. But Winfrey’s case is an example of the false confidence many people place in the results of ancestry testing. DNA analysis of ancestry typically traces DNA along one of two lines—the paternal Y chromosome or maternal mitochondrial line. It can give people accurate information about their father and father’s father, or mother’s mother and so on (thus conferring accuracy to the Hemings/Jefferson test). But each individual’s family tree is much greater than one line. If you go back four generations, you have 16 ancestors—but the testing only provides details about one of them, capturing only a partial picture of lineage. Further, while Winfrey’s genetic sample appeared to match the DNA of others identified as Zulu, the term describes a cultural and linguistic group that coalesced sometime after slaves were taken primarily from West Africa to the Americas. The science gets even more questionable when researchers and biotech firms attempt to draw conclusions about the ancient ancestry of entire groups. Two years ago, the National Geographic Society and IBM announced an ambitious project to collect more than 100,000 samples of DNA from indigenous people worldwide. The plan, known as the Genographic Project, was to use the DNA, collected from cheek swabs, to study ancient migration patterns and learn more about where different populations originated. With $55 million in funding and 10 centers based globally, the project was poised to amass, as its web site states, the largest DNA database of its kind in the world. But the project’s methodology is no more precise than other ancestry testing services. It also uses proprietary computer programs to trace either paternal or maternal lines, leaving a majority of an individual’s ancestors out of the analysis. It assumes that certain indigenous populations have been isolated and their genes not complicated by migration and mixing with other populations—an assumption many Native Americans challenge. The project also conflates geography with ancestry and culture, which can be easily interpreted as race. From its inception, the project has met with resistance from several indigenous groups. Though some have participated, most North American tribes and nations have declined. Given the history of scientific racism, indigenous people are wary of the project’s intentions and consequences. While scientists stand to gain knowledge, and career advancement, from research on indigenous people, those populations potentially have a lot to lose. For example, the project poses questions about the aboriginal inhabitants of various regions and countries, and if it were to conclude that groups in Alaska came from Asia or elsewhere, the research could be used to undermine indigenous claims to land and other rights. “Governments have a long history of trying to divest indigenous peoples of their land rights and undermine their cultural integrity,” says Debra Harry, executive director of the Indigenous People’s Council on Biocolonialism, which opposes the project. The terms “ancestry” and “genetic diversity” have emerged as alternative ways to describe the differences we know as race. But they may be no more accurate in expressing human genetic variation than traditional racial categories are. Genetic markers attributed to one group or region of the world can be found in others. Whether scientists discuss the variations in terms of geography or ancestry, the impact will be the same: resurrecting race and racial differences as concrete biological facts, encoded deep within our DNA, and confirmed by science. Ziba Kashef writes frequently about health and race issues. Her work has appeared in Real Health, NMA Healthy Living, Essence and other publications.

Can you use your DNA to "buy" racial identity?

The Daily Bruin, a UCLA newspaper, writes about some interesting motives for DNA testing: the attempt to identify yourself--or perhaps your children--as members of a particular ethnic group for the purpose of getting past racial quotas for college entry, for financial aid, or for tapping into some of the money generated from American Inidan casinos. Some are even trying to claim Israeli citizenship on the basis of a genetic test result.

The article chides those who chose this path:

Systems of racial preference are praiseworthy but plagued by the fact that racial identity is impossible to quantify. Manipulation of such systems is not only shameless, it also undermines them. And to further complicate the issue, these ethnic ancestry tests have a margin of error that scientists say can be misleading.

Science should be used for the pursuit of knowledge, not personal advancement within any possible loophole. It would be naive to expect people to ignore opportunities that would give them better pay or entrance into a better school; on the other hand, corporate employers and college admissions officials can't do anything about it without taking on the hazy task of assigning a numerical value to that which makes someone a certain race.

The very idea that one can test out of, or into, belonging to a particular race is fundamentally flawed. These genetic tests are applying an absolute science to something that is far too personal to be measured empirically. In addition, if you're at the point where you're taking a test to see if you are a member of a specific race, then you probably don't identify with that race in the first place.

Moreover, testing might be able to create a balanced genetic breakdown of all students in an incoming class, but it does not guarantee a diversity of ideas and perspectives. Isn't that the purpose of having individuals from different ethnic backgrounds, especially in an academic setting?

While working on an issue about modern tribal members for a magazine called Oregon's Future (, I learned that tribes in the Northwest do not consider a person a tribal member on the basis of a DNA test alone--cultural connections are key. Some tribes even require that you live on tribal land.

They conclude:

This latest case of DNA testing highlights the problem of defining race.

Increasingly in the United States, race is a set of experiences with which one identifies, not a matter of fractional ancestries.

Marie Godfrey, PhD

Check out your risk for breast or colon cancer before considering genetic testing

Having just completed a colonscopy--I was told that Medicare doesn't pay for the procedure and I'll be going on Medicare in a few months--I was naturally glad to hear that I am "normal". Wondering what factors other than genetics might affect my susceptibility to colon cancer, I was immediately interested in an article from, the website of my local newspaper. I won't send you to the article, because it leaves out the most important information--how to find the website with the "new web-based program [that] can help you find out if you should seek out genetic testing." I checked out the Dana Farber link ( and found an interesting test for colon cancer--and others for breast cancer, heart disease, etc. I took the colon cancer test and found that my risk is below average. The test also told me what to do to decrease my risk. However, since there was essentially no mention of genetics, I may not have found the right site. We'll see if anyone responds to my question to KSL. If I find out more, I'll let you know. Marie Godfrey, PhD

Does genetic testing from different labs yield the same result?

I have often remarked that different genetic testing laboratories may give different results and suggested that people not automatically accept the results of one laboratory when planning their futures. This is especially true when major life decisions are involved.

A recent report from the IOS Press, published online by newswise introduces the situation for a specific genetic test as follows:

For individuals who develop colorectal cancers at a young age or have a family history of such cancers, microsatellite instability testing (MSI) has become an almost standard component of clinical evaluation. This DNA-based test can uncover hereditary nonpolyposis colon cancer syndrome (HNPCC), also called Lynch’s syndrome. However, despite the increased use of this test, there have been no reports of how well the results from any given laboratory agree with any other laboratory. In an article in the current issue of Cancer Biomarkers, researchers conducted testing across 6 laboratories to evaluate variability in reported results.

Here's what was done:

The six laboratories, located in the United States, Canada, and Australia, were members of the Cooperative Family Registry for Colon Cancer Studies (also called the Colon CFR). Using tumor samples collected since 1998 through the CFR, MSI testing was done at the six laboratories. Three of the laboratories had more than 8 years each of prior experience in MSI testing, while the other three set up MSI assays specifically for the Colon CFR.

The results--and follow-up--were very interesting:

When the result showed wide disagreement with no systematic trends, one of the most experienced laboratories was designated the “gold standard” reference facility. With further testing of samples among the most experienced laboratories, the credentials of the reference laboratory were validated. A review of the results from all of the facilities resulted in five key rules that laboratories should observe when conducting MSI testing. Using these lessons learned, a final set of testing showed much improved agreement across all six laboratories.

The complete article, “Ascending the Learning Curve – MSI Testing Experience of a Six-Laboratory Consortium” by Noralane M. Lindor et al appears in a special issue of Cancer Biomarkers and is available by subscription only. I'll try to get a reprint and post it to the geneforum resources. Unfortunately, I cannot even tell you which laboratory was found to be the "gold standard", but I will try to find out.

The tendency to believe the results of a single genetic test may result in part from our acceptance of technology we don't fully understand. We may also each have an inborn or learned tendency to accept a diagnosis, figuring that tests are generally accurate. How far we challenge a result, or how often we look for a second opinion, may be dictated by our personal feelings, our insurance coverage, and or general outlook on life.

I think what matters in this particular article, and the study on which it is based, is that testing can itself be tested. The lead author, Noralane M. Lindor states,

This experience flushed out some important principles in MSI testing…and demonstrated that a very high degree of concordance for MSI testing is feasible….We strongly urge all clinical and research laboratories conducting MSI to participate in a sample exchange validation with an experienced group or consortium and that clinical laboratory certifying bodies develop plans to evaluate quality of MSI testing results being returned to clinicians and patients.

We as consumers can encourage studies of this type and help make testing more reliable--even if we don't know all the intricate details involved in the testing and its interpretation.

Marie Godfrey, PhD


Does your physician know enough about genetics to help you understand the implications of genetic testing?

You probably only see your physician for short visits. It is unlikely that he or she will have time to explain the relationship of your genes to your health. Unfortunately, it is also unlikely that he or she knows enough about the genetic basis of disease to help you understand the details of particular diseases or conditions. A report from Case Western University presents this dilemma in an article, The Diagnostic Dilemma. They state the problem as follows:

Doctors will soon have an arsenal of new genetic tests to help select the appropriate treatment or drugs for patients. Will they know how to use them?

If you're lucky enough to have good health insurance--one that stresses preventive care--and you're interested in your genetic propensity for specific diseases or conditions, you will probably get more help from a physician's assistant. They often, in general, give you more time and are more recently connected to their formal schooling. However, a survey in late 2005 indicated that:

Allied health professionals are providing genetic-related services in clinical settings. However, sufficient instruction in genetic knowledge and skills is not being provided in their undergraduate and graduate training programs. (Assessment of Allied Health Graduate's Prepatation to Integrate Genetic Knowledge and Skills into Clinical Practice; J of Allied Health 2005;34(3):138-144.)

A better option would be a genetic counselor. Next difficult question--how do you find one? My first suggestion, as always, would be the Internet. Another option is your insurance company's help line. These are generally staffed by nurses or others specially trained to help you access information outside the physician's office.

Marie Godfrey, PhD

Genetic testing provides key to treatment

It's time to write positively about genetic testing!

While genetic testing available online may have many faults, well-controlled, clinically determined and supported genetic testing can have immeasurable benefits. A story in today's Chicago Tribune describes one such case.

Lilly Jaffe, 6, who was diagnosed with Type 1 diabetes when she was 1 month old, "now has the freedom to be a normal, active child. She can go to sleepovers or play dates without mom coming along to do blood sugar tests and operate her [insulin] pump. She can eat snacks without counting carbohydrates or testing her blood. The Jaffes don't even keep insulin in the house anymore."

Graeme Bell, a professor of medicine and human genetics at the University of Chicago, is the one who suggested that Lilly get tested for a genetic mutation first identified by a research team led by a British researcher, Dr. Andrew Hattersley of Peninsula Medical School in Exeter.

In a study published in the New England Journal of Medicine, Hattersley and colleagues showed that nearly half of patients diagnosed with diabetes before the age of 6 months have a mutation in one of two critical genes that work together to form a channel, or valve, that regulates the flow of potassium ions in and out of insulin-producing cells.

Normally, as glucose from food builds up in the bloodstream, the channel is cut off, causing potassium to accumulate in the cells. That, in turn, triggers the opening of another channel, for calcium. As calcium ions flow into the cells, they respond by secreting insulin.

The mutation - thought to affect as many as one newborn out of 200,000 - causes the potassium channel to remain open regardless of blood sugar. As a result, insulin secretion is drastically reduced, to undetectable levels in Lilly's case.

Hattersley showed that sulfonylurea drugs--currently used to treat only Type 2 diabetes--help close the potassium channel when needed, allowing cells to respond to glucose levels and make insulin.

Lilly is the fourth person to be treated this way in the U.S. and one of fewer than 100 in the world. But researchers suspect about 2,000 people in the U.S. have her kind of Type 1 diabetes and could benefit if diagnosed and treated early in life.

Now, let's put the pieces of this success together:

  • A researcher in England studies patients with diabetes diagnosed before 6 months of age and identifies a couple of "diabetes" genes
  • The molecular basis for the mutation is identified
  • A professor in Chicago, suggests treating patients with a particular genetic mutation, suggests treating the diabetes in a radically different way.
  • A genetic test is developed and a patient, on testing, is found to have the genetic mutation
  • The girl's physician, director of the Comprehensive Diabetes Center in Chicago, puts the girl in the hospital and begins giving her low doses of sulfonylurea while gradually reducing her insulin, adjusting the insulin level as successively larger doses of the oral drug take effect.
  • Within 5 days, Lilly has a new, less-encumbered life.

O.K., there is a down side. Very, very few people are affected by this particular mutation. And there are many, many mutations out there. But, as research progresses and connections are made between genetic information, disease, and treatment, similar successes will continue to happen.

You can access the complete article at

Marie Godfrey, PhD

Having another person's DNA tested will be illegal in the UK

In the UK, it will be illegal starting Sept 1 to take a sample of someone's DNA and have it analysed without obtaining their consent. According the New Scientist, in an article discussing the new law:

The legislation allows for some exceptions. For example, if a couple have a child and then separate, and the man has parental rights, he is entitled to have the child's DNA analysed without getting consent from either the child or mother. He could submit the DNA along with his own for paternity testing.

The new law, part of the Human Tissue Act 2004, applies to employers who want to check up on their employees, insurance companies hoping to avoid insuring expensive enrollees, and publicity hunters who follow celebrities around hoping to get a DNA sample.

Helena Kennedy, chair of the Human Genetics Commission (HGC), which advises the UK government, stated:

Until now there was nothing to stop an unscrupulous journalist from secretly taking an everyday object used by a public figure - for example, a coffee mug - get a DNA sample from it, have it analysed and then publish their genetic information. DNA sequencing has impact not only on one person but on their whole family's privacy too.

To the best of my knowledge, there's no similar law in the US. This sounds like a good idea for American public policy, especially with the large number of ways available to have someone's DNA analyzed without them knowing. If you haven't read it yet you might be interested in Vern's story, a part of the new Consumer's Guide to Genetic Testing now being beta tested on this website. Check it out by clicking on guide in the text of the home page.

Marie Godfrey, PhD

If you choose not to have your newborn tested for genetic conditions, are you "endangering" your child?

As newborn genetic testing morphs into adding a newborn's DNA to a database, some prospective parents--and grandparents--are questioning whether the state should rule over testing and use of a baby's DNA.

The newborn testing--growing ever more popular and ever more intrusive--practiced in all 50 states is pretty much forced upon new parents. Often, the baby is taken out for testing--that familiar prick of a heel--before the mother has even had the opportunity to refuse. For those babies born at home, the testing typically comes at the first visit to a physician's office.

I was always in favor of this testing, especially for conditions that can be relatively easily treated, preventing long-term serious effects. This is the case for the condition known as PKU--phenylketoneuria--where the newborn's inability to digest certain proteins can result in irreversible brain damage. These older tests are generally for the accumulation of specific biochemicals in the blood, and are not DNA tests.

But, recently the Children's Hospital of Philadelphia (known as CHOP) announced that they will begin collecting, testing, and storing DNA from newborns--unless the parents opt out of the program. What do they intend to do with the DNA? As I heard it, they plan to build a DNA database they can screen for genes they can study and--perhaps--patent. As with all "great, new ideas", no end of benefits are promised us.

Meanwhile, parents in Nebraska were in court not long ago for refusing to permit blood testing on their newborn infant. Their reasons were religious: letting blood releases some of the body's life. Arguments in court suggested that these parents could be considered to be endangering their child, much in the same way a parent endangers a child who refuses treatment of an injury or immunization.

Changes in public policy all come about from people speaking up and expressing their own views. What do you think about these developments? What defines the line between endangerment, opportunity, and identity theft? Am I needlessly challenging a practice that's more beneficial than harmful?

Marie Godfrey, PhD

Is newborn genetic testing the same as DNA testing?

When hospital personnel take a small drop of blood from a newborn's heel, they are taking material for a genetic test. However, they are not going to analyze the DNA from that blood sample. The blood, trapped on a piece of filter paper, will be examined in a tandem mass spectormeter. This machine looks for specific chemicals within the blood, chemicals that accumulate if the newborn has certain genetic conditions, such as phenylketouria.

The number of tests now being conducted varies considerably across the country. I wrote some time ago about additional tests now required in Florida. Today's news was about Virginia. Seventeen disorders were added March 1 to the list of 11 disorders already screened for in newborns.

Most of the disorders are rare. Last year 129 children were found to have a genetic disorder. This year, the state expects to find an additional 46 cases, based on the increased number of disorders being tested.

Parents may refuse the testing for religious reasons.

According to the article in the Winchester Star,

With modern technology it’s possible to screen for hundreds of diseases. But it’s only helpful to screen for diseases that can be treated, said Dr. Bryan Kornreich, with Pediatric Associates of Winchester and chairman of WMC’s Pediatrics Department.

Dr. Kornreich was also quoted as stating:

Because screening tests are designed to catch anyone who could possibly have the disorder, they sometimes show false positive results, he added. More tests are required before an actual diagnosis is made. The testing is expensive and stressful for parents and child.

But, he recommends that additional testing not be done unless there's a family history of the disorder.

A national panel is suggesting that states broaden their newborn testing programs to include more of the disorders that can be treated with diet changes. These treatments can prevent brain damage. For more information on newborn testing, check with the March of Dimes or your pediatrician.

Marie Godfrey, PhD

What genetic tests are mandated for my newborn?

If you're wondering what tests are mandated and/or available in your state, you can review a comprehensive list updated late in December at Don't expect to understand what many of the names mean. To learn more about specific conditions, and what treatment offers, look at This site, provided by the Florida Department of Health gives extensive details on the 34 conditions they will be testing for.

As is often the case, one of the best sources for information is Wikipedia ( online wealth of information on many, many topics--in a number of different languages. Just search for "genetic testing".

Marie Godfrey, PhD

Is genetic discrimination an urban (suburban, exurban) myth?

As a genetic counselor specializing in hereditary cancer syndromes, hardly a day goes by without questions like:

  • "If this goes in my record, can I lose my health insurance and life insurance?"
  • "If I have a mutation, will my kids still be able to get health insurance?"
  • "If they know I have a higher risk for breast cancer, can they refuse to cover my treatment?"
  • "My PCP said that if I test positive, they could cancel my health insurance. Is that right?"

The answers are: no, yes, no, and no.

The legal protections:

The HIPAA (Health Insurance Portability and Accountability Act) law, passed in 1996, states that insurers may not view the results of a genetic test as a pre-existing condition.

This law also requires that health insurance coverage be portable from job to job. In other words, as long as the insured does not have a significant lapse in coverage, the new group insurer must provide comparable coverage, regardless of previous medical history.

Most states also have laws that prohibit discrimination by health insurers and employers based on genetic test results.

The practical reality:

My experience as a genetic counselor over the past 3 years leads me to believe that the fear of genetic discrimination is overblown, and may in itself do more harm than actions by insurance companies.

For some people, the result of a genetic test may prove life-saving. To explain that dramatic statement, allow me to provide some background.

About 10% of cancer is known to be hereditary: that is, caused by an inherited mutation in a single gene. For example, a woman who inherits a mutation in the BRCA1 or BRCA2 gene faces up to an 80% lifetime risk for breast cancer, and up to a 40% risk for ovarian cancer. (Compare that with the population risks of 10-12% lifetime risk for breast cancer, and less than 1% lifetime risk for ovarian cancer.)

Women with a family history of breast and/or ovarian cancer, especially pre-menopausal breast cancer, may be offered a blood test to detect mutations BRCA1 and BRCA2. In most cases, this test is only offered in the context of genetic counseling to insure informed consent and proper follow-up.

If a mutation is detected, increased surveillance and/or prevention options are recommended, based on the best currently available evidence from the medical literature and the patient'spersonal preferences.

Yes, some of those options are drastic. Because we still do not have effective screening for ovarian cancer, approximately 70% of ovarian tumors are not detected until after they have infiltrated the abdomen. The prognosis is often grim.

Therefore, the recommendation for a woman with an inherited mutation in BRCA1 or BRCA2 is to have preventive salpingo-oophorectomy (removal of ovaries and fallopian tubes) after she is finished with childbearing. Studies show that in 10- 15% of women with BRCA1 or BRCA2 mutations having this preventive surgery, occult ovarian cancer is already present.

Thus my daring statement about the possibility of this genetic test saving lives.

If such a woman refuses testing for fear of discrimination, where is the greatest possibility for harm?

In my experience, health insurers have become more and more willing to cover BRCA1/BRCA2 sequencing because they understand that it is solid preventive medicine. And they are much more willing to cover, for example, breast MRI's for women known to be at higher risk.

I welcome the opportunity to blog here, and welcome feedback. My hope is to help guide conversation about genetic testing and discrimination toward the realm of its practicality in the context of medical care, and away from fear, based on imaginative "what if's ....?"

Of course there are larger societal issues regarding insurance coverage and medical costs. I am saddened and ashamed that millions of Americans have no health insurance at all. For them, a $3000 genetic test is out of the question. Let's put those concerns in the political arena where they belong by electing legislators who will push for universal coverage.

And for the women who we know are facing an 80% risk for breast cancer, let's try and make sure they can get the best preventive care available to save their health and their lives.

Risks of online genetic testing

The Geneforum poll on DNA tests has been running for quite a while. Currently, we have votes from 300 people. Of these, 44% have purchased or would purchase a DNA test. A similar percentage (44%) selected one of the "negative" options. As we might expect, few people added a comment.

Whatever your answer was, you may be interested in the following article, posted today on the Hindu News Update Service. The article actually came from London's Guardian News Service. Naturally, I latched on to it, since I am quite leary of genetic testing available online. Here's some of what the author James Randerson said.

The genetic testing services available at present can't give you the power to make effective and ethical decisions about how such tests might impact your life- though they might aspire to, or insist they can.

As I described earlier in a blog entry, the reliability of four companies was tested by a US Government Accountability Office investigation released in July ( Fourteen "different" samples--which actually came from only two subjects--were sent to these companies and the results compared. TheGAO's damning report shows that the companies - which charged between $89 and $395 for the tests - provided inconsistent results and offered vague and misleading advice to their "clients".

The companies?

  • Suracell from Montclair, New Jersey
  • Sciona Inc of Boulder, Colorado
  • Genaissance Pharmaceuticals of Newton, Massachusetts
  • Genox and Genelex Corp of Seattle, Washington

Randerson's report goes on to describe pharmacogenetics--a field which is predicted to tailor treatment to a person's genetic makeup. I'll write more about that in the next entry.

To see all of Sanderson's article, go to

Marie Godfrey, PhD

Should egg and sperm donors be genetically tested?

A flap in New Zealand over allowing gay men to be sperm donors has--naturally--raised many additional questions. I'm particularly interested in the genetic testing application.

If some people believe there's a gene for "gay", and insist that gay men be required to stipulate their gayness on sperm they donate to a sperm bank, should all donors be required to specify their genetic heritage? Is having a gene for a fatal disease worse than having a gene for being gay? What if an egg donor has the BRCA genes? Should that be disclosed?

Hmmmm. I've seen sperm donor catalogs, but haven't seen egg or embryo donor catalogs and don't know if they exist. But, arguing that a condition that could have a genetic component be disclosed in donating sperm, eggs, or embryos leads us down a terrible path toward eugenics. If that's a new word to you, check it out.

As always, your comments are welcome.

Marie Godfrey, PhD


Should genetic counselors be licensed?

Genetic counselors are currently licensed in Utah. Outside of Utah, genetic counselors practice without a license. Most are well-qualified and ethical health care professionals. Many are board-certified by the American College of Genetic Counseling, but certification and licensure are two different things.

There has been a push in the genetic counseling community in recent years to support licensure in other states, and eventually nationwide. As the availability of genetic testing increases, so does the risk of an unqualified (or underqualified) person hanging out their shingle, calling themselves a genetic counselor, and endangering the well-being of those who choose to pay them a visit. Licensure ensures that healthcare professionals are qualified to perform their jobs and defines their scope of practice. It also gives the public a course of action should they want to file a complaint.

Counselors in a number of states are in the process of drafting legislation to require the licensure of genetic counselors. Some state groups have gotten as far as a bill on the floor only to uncover unexpected opposition from other lobbying groups. Because these changes have to occur on a state-by-state basis, we are learning about the best approaches as well as the barriers as we go.

Doctors, nurses and other allied health professionals are licensed. Massage therapists are licensed. Hairstylists are licensed. Realtors are licensed. The list is long.

It makes sense to me that if the person cutting my hair needs a license, so should a genetic counselor. After all, hair grows back. The impact of genetic testing and diagnosis can change a person's life.

What do you think?

Nicole Teed, MS, CGC

Should I get my DNA scanned, even though it might reveal that I'm fated to suffer some incurable disease like Parkinson's?

The author of an article that appeared in Wired, at was asking a question many of us have asked:

Should I get my DNA scanned, even though it might reveal that I'm fated to suffer some incurable disease like Parkinson's?

The answer was, in the end:

So, no. Don't do it. Or at least use a lab your doctor recommends; don't search for one on Google. DNA tests are barely regulated, and plenty of online labs are fly-by-night "Canadian" Web pharmacies. And choose a lab that also offers genetic counseling, because you'll need someone to help decipher your results

The author suggested that people choose to pay for a genetic test because they think they're buying a "sense of control". If you know what your future might be, you can "prepare for it - or even prevent it". But, acknowledging that genetic results are "probabilities, not certainties" the author concludes that broad tests--or a number of tests--will turn up something. Do you think you'll have more control over your future if your test results says, "eat better, stop smoking, get more exercise"?

And, does learning you have one of the BRCA mutations mean you're going to choose a double mastectomy? That doesn't sound like control to me.

Well, maybe you are just curious. What will you do if you get bad results--do you tell your children, your relatives? Will you tell your insurance company? If you do, they may cancel your policy (even though it's supposed to be illegal); if you don't tell them, you're committing insurance fraud.

So, this article's author says: "Don't do it." I say, consider first what you will do with the results, then consider a genetic test--but be sure you choose one you can afford, both security-wise and money-wise. Better yet, consider putting it on your to-do list--for a year or two from now.


Marie Godfrey, PhD

What are the risks associated with genetic testing? It's not all about the numbers

For several years as a prenatal genetic counselor, I spent my days discussing pregnancy risks with expecting women and couples. One of the most common reaons for referral was a screen-positive result on maternal serum screening. (At the time, first-trimester screening was in its infancy, so I'm referring here to second trimester screening) This blood test is performed in the second trimester of pregnancy and outputs the risk for spina bifida, Down syndrome, and trisomy 18 based on three (or, now, four) maternal serum proteins.

It's intention is to flag those pregnancies that are at higher risk, so that further investigation with high-resolution ultrasound and/or amniocentesis can be offered. It's real effect is to scare the living daylights out or pregnant women, who often assume that their baby definitely has the condition instead of simply an increased risk for the condition.

Here is a common risk-communication scenario:

The results of the maternal serum screen indicate a 1 in 100 chance for the fetus to have Down syndrome. That's 1%. Or, turned around, there is a 99/100 chance or 99% chance that the fetus does NOT have Down syndrome.

However, to find out for certain, amniocentesis must be performed. There is a chance of pregnancy loss with amniocentesis that's usually quoted around 1 in 200, or 0.5%.

The risk of pregnancy loss is lower than the risk of Down syndrome. If you were making a decision based solely on the numbers, it makes sense to have the amniocentesis performed.

However, it should not surprise you that people making decisions about their pregnancy and future child aren't concerned only with the numbers. They are concerned about lots of other factors: facing the possibility of a child with disabilities, making a choice about abortion, miscarrying a healthy pregnancy, getting poked with a big needle. I think you get the picture.

Often, it boils down to what I like to call the "rock or a hard place" question. Would you feel worse if you delivered a child with Down syndrome and didn't have the diagnosis prenatally, or if you found out you experienced pregnancy loss because of amniocentesis?

Nobody wants to make that kind of decision, and nobody does it based just on the numbers. Throw in the complexity nature of families, reproduction, marital relationships, past experience with disability, and so many other factors, and you can understand why it's call genetic counseling.

Nicole Teed, MS, CGC

What can happen if a genetic test is wrong?

The Ohio Supreme Court in the US ruled this month (May 2006) that parents may sue on the basis of medical malpractice in the event of negligent genetic counselling or the negligent failure to diagnose a severe or fatal condition in the fetus that would have caused them to seek an abortion. This decision arose in response to the suit of a couple whose eight year-old son was born with trisomy 22, a genetic condition that means he is severely disabled. The results of genetic testing prior to conception showed a balanced translocation between two choromsomes (part of the DNA was switched, or transposed). When the woman became pregnant, she had a chorionic villus sampling (CVS) test. The test stated that the fetus was female and had the same translocation. Therefore, no ill effects were expected (the woman, after all, was not affected). Ultrasound tests showed normal development. Unfortunately, the newborn was male and severely disabled. The parents sued, claiming that the hospital had "negligently performed and interpreted the diagnostic tests and that they were negligent in their failure to recommend further tests that would have revealed Matthew's genetic abnormality" (see law report) with the result that they were denied the option to terminate the severely affected pregnancy. They claimed damages for the costs of pregnancy and delivery, of raising and supporting a disabled child, and for the emotional and physical suffering associated with having a severely disabled child. The court allowed the claim for 'wrongful birth' to stand, but ruled that only those costs associated with pregnancy and birth could be claimed for, overruling a lower court decision that the parents could sue for the additional costs of raising their disabled child over those for raising a normal child.

Courts in the US appear to be reluctant to grant claims by parents for the financial burden of caring for a severely disabled child where the cause of the disability is genetic in origin. However damages for ongoing care costs as part of a 'wrongful birth' suit have been awarded by a few US states where the disabling condition arose during delivery.

A negative result on a genetics test doesn't mean you're safe

Many of the online sites that offer genetic tests that tell you whether you may get cancer are not telling you the whole truth. With the news releases today and yesterday about a "new" genetic test for existing colon cancer, I started searching for similar items on the Internet and came across another one of those "recurring numbers".

This time the number is 5--5% of colon cancers may be associated with genetics. We already know that only 5% of breast cancers are associated with the BRCA1 and BRCA2 genes. Now, we have an additional group of very important cancers that do not appear to have a strong genetic component.

So, what do you do with the results of a genetic test you purchased online:

1. Recognize that the results refer to only 5% of the known associations between the cancer you're concerned about and genetics. The other 95% is not covered by the genetic test.

2. Remember that having one of the breast cancer genes or colon cancer genes does not mean you are destined to have that cancer. These genes (mutated genes, that is) are more likely to be found in those with breast or colon cancer than in the general population. People who have the gene--these are typically identified in family studies--do not necessarity have the cancer. Their chances are higher, but a lot more must be taken into account than the genetic mutation.

So, that genetic test you're interested in only "sees" specific genetic mutations and only 5% of breast or colon cancer is associated with these mutations.

Again, I caution: think about how you will deal with the results of a genetic test if you purchase one and send it in. If you get an answer that says you have the "bad" genes, will you have your breasts or colon removed? If you get an answer that says you do not have the "bad" genes, will you consider yourself safe and stop doing all those things doctors say help us avoid these cancers? Will you be devasted if you later discover you have one of these cancers?

Use the Internet to search for additional information on any test you are considering. Believe only reputable sites and, if you choose to have a test for breast cancer or colon cancer genes, understand the tests' limitations and use the test results as a part of your heath care--not all of it.

Marie Godfrey, PhD

Gender test questioned by more parents

The uproar about Acu-Gen’s Baby Gender Mentor continues. The test—advertised on the provider’s website as a “NEW Baby Gender Mentor Home DNA Gender Testing Kit”—is presumably based upon identifying a Y-chromosome in fetal-specific DNA obtained from a few dried drops of mother’s blood. If there’s a Y, the baby’s a boy; if there’s no Y, the baby’s a girl; if you’ve told them ahead of time you’re expecting twins, they can tell you whether you have one baby of each sex. The other possible options are not described in the publicity.

The provider claims 99.9% accuracy—comparing their test to their claim for 80% accuracy of sonograms—and guarantees a 200% refund [if you meet certain requirements]. Yes, I intended the print of that text to be smaller.

So, what’s the problem?  Increasing numbers of mothers are claiming that the test inaccurately predicted the gender of their infants—but not all these infants have been born yet, and the provider of the test states that ultrasound is not sufficiently accurate to challenge their test. So, no one knows whether any refunds have been made or whether any of the "errors" have had serious ramifications. 

According to the Science Magazine article that the provider claims provides the proof that the test works, “Food and Drug Administration approval is not needed as long as the blood sample goes to a lab and the test is sold as a service rather than as a kit. The provider’s website interchanges the words test and kit quite frequently; however, because the actual testing is not done by the person who supplies the blood (as for example with a pregnancy test kit or the at-home HIV-testing kit), the conclusion that this is a test, not a kit, is probably appropriate.

Meanwhile, a Canadian company has been offering a fetal DNA gender test for more than 2 years. Their marketing is low-key, however, and the test uses fresh blood from a woman 10 or more weeks pregnant—not the dried blood from a woman 5 or more weeks pregnant.  

If the only risk were incorrectly buying the “wrong” gender clothing, maybe we could just say, “buyer beware”. We can only pray that no one considers terminating a pregnancy based on this gender test. Meanwhile, according to National Public Radio a couple of months ago, "customers and scientists are raising questions about the accuracy of the widely publicized genetic test; customers have complained to the Federal Trade Commission, and at least one law enforcement agency is investigating a company that sells the test."

You can see the Science article at and listen to the NPR report at

Marie Godfrey, PhD

Blog Entry | Genetic testing

Here come the lawyers--Baby Gender Mentor

I worked for pharmaceutical companies for many years and was always focused on patient safety. One indication I now use that a product is in trouble is when I start seeing law-firm ads on the t.v. In this case, the product is Baby Gendor Mentor--described earlier in this Genetizen blog.

The test is sold through ads in pregnancy and baby magazines and over the Internet and is supposed to tell an expectant mother the gender of her developing child as early as 5 weeks. The mother supplies a few drops of blood and the test says, congratulations you are expecting a ......!

Last fall, there were news items that the results were being questioned by a number of people. Recently, questions related to the test have again arisen. News programs that earlier contacted BABY Gender Mentor and Accu-Gen, the source of the test, were told to wait until babies had been born and see whether the test or a conflicting ultrasound was right in each case. The company claims 99.9% accuracy, but refuses to release any data. Now, some of those babies have been born. Again, though, there's no unbiased collection of wrong vs. right predictions.

What we have learned, is that a lawsuit has been filed by some mothers in New Jersey--the number of plaintiffs varies depending on the source you read. Here's the webpage for the lawsuit: . As with any group seeking validation, the group is looking for people to add to the list of disgruntled purchasers.

Both ABC (  and NPR ( have recently aired reports. A website called ( has been following this and other gender identification issues for some time.

I'm sure there's more to come.

Marie Godfrey, PhD







Not related to Genghis Khan after all

When PBS television showed stories of famous people and their ancestry based on genetic testing, no one on the show ever asked, "How sure are you the results are accurate?" I remember wondering about that when a person who had always considered himself African American found little genetic connection to that ancestry.

Today, we learn that the University of Miami professor who was in the news because Bryan Sykes [of Oxford Ancestors] informed him he was a descendant of Genghis Khan, may not be able to claim that connection after all. According to today's Miami Herald, "Robinson helped debunk the link himself. In preparation for an appearance in a documentary that would have taken him to Mongolia, he asked Greenspan [of Family Tree DNA] to re-examine a DNA sample he had submitted to that firm in 2003."

The author of the Herald article was unable to contact Sykes, but offered the following reasoning for the different results:

Sykes' . . . testing revealed a link -- seven of nine genetic markers -- between Robinson's genes and a genetic signature that has been commonly associated with Genghis Khan.

Further testing revealed that markers not tested by Sykes put Robinson's ancestors on a different ''sub-branch of the Y chromosome DNA tree of mankind,'' . . . Greenspan said Sykes' initial results did not provide enough information to make a claim to Khan's genes.

The different results found by different companies reflects a variety of factors and doesn't necessarily reflect on the quality of genetic testing conducted by either Oxford Ancestors or Family Tree DNA. However, the failure to substantiate the initial results--do we even now know which results are correct?--has, in this case, resulted in some disappointment and a lost trip to Mongolia. And this testing was "identity" testing, believed to be far more accurate than testing for active genes.

I wonder how Robinson would feel if a body part had been removed, not just an ancestor.

Marie Godfrey, PhD




Testing misses some breast cancer-related mutations

An article appearing in newspapers around the world refers to a recent study published this week in the Journal of the American Medical Association (JAMA 2006;295:1379-1388). The following is a direct quote of the version written for Reuters Health, by Karla Gale:  

Commercial genetic testing does not detect all cancer-associated inherited mutations in women with a severe family history of breast or ovarian cancer. . .

"Women who were familial breast cancer patients were being commercially tested for inherited mutations in BRCA1 and BRCA2, and a very large number had reports returned that said they had negative results," Dr. Mary-Claire King said in a presentation Tuesday at a press briefing coinciding with publication of the Journal's theme issue for March 22/29 devoted to women's health.

Dr. King noted that it has been clear since BRCA1 mutations were first reported "that there were mutations that in principle could not be detected by conventional sequencing methods, no matter how perfectly they were carried out."

In the US, nearly all genetic testing of BRCA1 and BRCA2 is carried out by one company. Most of the mutations it can detect are small deletions or duplications.

Dr. King, from the University of Washington in Seattle, and her research team set out to quantify how many mutations would be missed by commercial tests. That's important, she added, because "risk reduction interventions for those with mutations are highly effective, but they are also horrifically invasive, including prophylactic salpingo-oophorectomy and mastectomy that one would not undertake unless she was at extremely high risk."

Their study included 300 patients with breast or ovarian cancer and at least three affected family members, for whom commercial testing yielded negative results.

The researchers used multiplex ligation-dependent probe amplification [MLPA], and other DNA- and RNA-based methods to detect genomic rearrangements in BRCA1 and BRCA2 as well as germline mutations in CHEK2, TP53, and PTEN.

They found that 35 (12%) of subjects had genomic rearrangements of BRCA1 or BRCA2. The reason they couldn't be detected by the commercial method, Dr. King explained, is that "they were genomic deletions or duplications that are much larger than can be detected by conventional sequencing, ranging from 1000 to 170,000 base pairs, incorporating part of BRCA1 or BRCA2."

Another 14 (5%) had mutations in CHEK2, which confers a doubled risk of breast cancer but no elevation in risk of ovarian cancer. Three (1%) had TP53 mutations, which confer a 90% risk of developing one of the cancers associated with the Li-Fraumeni syndrome.

All the mutations they found were individually rare, the researcher noted.

Many of the other subjects may also be carrying cancer mutation genes that have not yet been recognized, Dr. King told Reuters Health. "We are continuing to look for additional breast cancer genes that will explain inherited breast cancer in those patients."

Meanwhile, a partial solution to improving genetic testing, she added, would be "an open, competitive marketplace for development of genetic testing for BRCA1 and BRCA2, just as we have for most other genes."

That includes "nonexclusive licensing of patents on genes, because competition is the best way to improve technology and bring the price down." As opposed to drugs for which patents make sense, she added, genetic tests are much cheaper and take less time to develop, and they are not subject to FDA approval.

Breast cancer can be expected to hit one woman in eight during her lifetime. Testing promoted as a predictor for breast cancer, and controlled primarily by one company, only looks for mutations in BRCA1 and BRCA2, and these genes are associated with only 5% of breast cancers. Now, we also know that there are mutations that are not being detected even by this test. So, genetic testing even for breast cancer--the most widely touted of tests available for potential disease--has a long way to go.

Marie Godfrey, PhD


What do I need to know about that $99 Home DNA kit?

Wait! Don't run right out and buy the $99 DNA testing kit described in your Sunday newspaper! Check it out and see what's really involved.

Here's what the blurb in your newspaper says:

Genetics has moved from the lab to the supermarket. Lund Food Holdings, a grocery store company, has started selling home DNA kits developed by Sciona Inc. within its pharmacies and at Purchasers can test their genetic predisposition for disease in five areas: bone health, heart health, inflammation, insulin resistance and how well the body rids itself of toxins. "This is a way of finding out if you're susceptible to illness before symptoms appear," says Yael Joffe, a Sciona dietitian. Consumers use a cheek swab to take a DNA sample, which is mailed to a lab. Within three weeks they will receive a detailed report that reviews the findings and offers nutritional steps to improve their health.

I went to the website for Sciona, Inc. and found a little bit different picture.

First, the cheapest test there is $126 (which apparently includes shipping).

Second, there's not one test, but 5 individual tests and one comprehensive (all 5) test ($252).

Third, the disclaimer at the bottom of the page says:

The Cellf Genetic Assessment is not a genetic test for disease or pre-disposition to disease, nor does it determine a medical condition. The information that will be provided is not a diagnosis of a medical condition. Individuals with specific concerns about their health status or genetic testing should consult their doctor or genetics professional.

Fourth, by clicking on Product Specifications, you can see what genes the tests claim to look at. You may find a bit of overlap. I wondered what "genetic variation screened for variations found in your gene" meant.

Fifth, I found the following of particular interest:

Sciona's Genostics Rules Engineâ„¢ is proprietary, patent-pending software based on a data mine of over 1,000 scientific studies. The software uses complex mathematical algorithms to produce personalized health intervention recommendations based on genetic profile, diet and lifestyle. We have 10,000 genes in our library, and actively track approximately 200 genes that may have a strong nutritional intervention link. We are concerned only with genes that may indicate a potential risk for a health condition that may be manageable through changes in diet, lifestyle and/or nutritional supplementation.

Not long ago, in a similar Sunday newspaper, I read an article by someone who submitted a DNA sample for a similar test (may have even been this one, but I don't have the article handy). His final response was something like this: for the same amount of money, I can read nearly any article on health and diet and learn the same things. I don't really think I needed to pay this amount to learn that I need to eat more fiber and excercise more often.

Personally, I'm not willing to pay the money to have a computer plug my name into 30 pages of "you should" information--regardless of my genetic background.

Marie Godfrey, PhD

Investigation finds that home DNA testing kits promise more than they can deliver

Several newspapers lately have reported on the General Accountability Office's testing of genetic tests sold online. According to the U.S. News and WorldReport, "these 'direct-to-consumer' genetic tests, which cost from less than $100 to over $1,000, have proliferated on the Internet in recent years, many promising to give consumers genetically based nutritional advice or advance warning of life-threatening illnesses."

Unfortunately, the GAO report concludes that the tests make predictions that are medically unproven and "so ambiguous that they do not provide meaningful information."

According to news reports, "the GAO investigators took two DNA samples via cheek swab, one from a 48-year-old GAO employee and one from the 9-month-old daughter of Gregory Kutz, the GAO's managing director of forensic audits and special investigation, and submitted the two samples under 14 phony names. The online firms reported back that the 14 fictitious customers were at risk for a wide-ranging list of serious diseases, including cancer, diabetes, and high blood pressure--despite the fact that only two people were tested."

The Senate Select Committee on Aging held a hearing on the GAO's findings last week. Genetic science holds great promise," said Republican Sen. Gordon Smith of Oregon, chairman of the committee, who requested the GAO investigation. "Clearly, consumers are being misled and exploited by this modern-day snake oil, and I am shocked to learn how little the federal government is doing to help consumers make informed decisions about the legitimacy of these tests."

The Federal Trade Commission is also urging consumers to be cautious about over-the-counter genetic tests, noting that companies may post your results online, which could raise privacy concerns. A new brochure offers tips and advice on these new at-home tests.

Many of your questions can be answered here, right on the Geneforum website. Check out the new Consumer's Guide to Genetic Testing.

Marie Godfrey, PhD

What do you think a DNA test will tell you?

For one to several hundred dollars, you can have a DNA test done. Before you order that test, ask one simple question: what will you do with the results? Even more pertinent may be: what will the company do with the results?

The New York Times on Sunday presented the story of Georgia Kinney Bopp--a genealogist with a mission. Should you happen to run into her, keep your mouth closed--literally. Ms. Bopp travels with a DNA kit and can be very persuasive. Ms. Bopp apparently cornered a second cousin in Reno, Nevada, pulled out a DNA kit, and convinced him to give her a sample.

To me, the interesting part of the story was the description of how limited the information is that Ms. Bopp gets when she gets results from a DNA test. According to the article,

DNA tests can deliver surprises. In some families, someone may discover, for example, that he or she lacks a DNA connection to their supposed blood relatives.

What would you do if you learned from a test that your mother was not your mother, or your grandfather was not your father's father? It happens. Is it accurate?

One DNA test will not be enough for much family history testing--even for a paternity test you need samples from both the supposed father and the child. So, if you're searching for your ancestors, prepare to pay for more than one test.

The article goes on to state:

The  DNA tests have limitatiions, showing only small slices of genetic history. Here is why: a popular test, the Y-DNA, analyzes the chromosome that is passed virtually unchanged for generations from father to son. . . .Another test looks at mitochondrial DNA, a form that is passed from a mother to all her children. Both men and women can take the test.

The Y chromosome test tells you about only one male ancester in a generation, and the mitochondrial test tells you about only one female ancestor. . . .It doesn't take into account the fact that if you go back just 10 generations (300 years), you have 1,024 ancestors in that generation. Just seeing one ancestor, means you're looking at a very small slice.

Now, what does the company do with your DNA and/or the results of your test? If the results are fully anonymous, how do they send you the results? Will they add your DNA results to their database so others can check their DNA against yours? Did you hear about  the adolescent who found his "anonymous" sperm donor through DNA database information on the Internet? 

Have you ever wondered: How many kinds of DNA tests are there? Will you be able to understand the test results when you get them? What does 99% exclusion, 75% inclusion mean? If you "relate" to a tribe now living in Africa, does that mean your ancestors came from Africa? If you're black, but your DNA is 79% European and 21% Asian, are you still black?

None of these questions address the more dangerous side of DNA testing--the medical side. If you have a test for a "breast cancer gene" and the test result says you have a 50% chance of developing breast cancer, do you schedule a double mastectomy? Will your insurance pay for it? What will you tell your sister or your daughter about their chances of developing breast cancer?

Please don't  blindly order a DNA test and send your personal genetic code off to some company you've only read about through an advertisement. Check into things first. It's too late once the results arrive.

Marie Godfrey, PhD


What impact will DNA testing have on your life?

Some people expect that when they send a cheek swab off for DNA analysis, the results they get will be the final answer to a specific question: will I get cancer, who were my ancestors, is this man the father of my child?

Let's assume for the moment that the tests have no false positives, false negatives, or technical complications that put the data in question. The results come in and you have an "answer". Did you think ahead of time about what the answer will mean to your life?

If you considered the answer to be a part of a much larger whole, that must fit together and be rational, then you are more likely to be satisfied with the answer you received and behave in a reasonable way.

I received in my Google alerts today an article from the Hartford Courant, my hometown newspaper. It was called, The DNA Path To Identity, and was written by Frank Harris III. As you could see from his photo Mr. Harris is black. What you can't see is what his DNA test told him, in his words:

In my case, my DNA markers matched definitively with those of the Ibo people in Nigeria and the Kimbundu people, also known as Mbundu, in Angola.

Mr. Harris approached his DNA test with an open mind and a clear intent to select as accurate a test as possible. He chose a company that focused on African Americans and investigated the company, its capabilities, and its do-director. After paying his money and receiving his test kit, Mr. Harris sent it and and received results:

The results were contained in a brownish folder that opened up to reveal the words "African Ancestry" in a pyramid. There was a cover letter from company president Paige. It said: "It is with pleasure that I report that our PatriClan analysis successfully identified your paternal genetic ancestry. The Y chromosome DNA sequence that we determined from your sample shares ancestry with the Ibo people in Nigeria and the Kimbundu people in Angola."

There followed specific scientific data related to polymorphisms, which are different forms of DNA. Along with the packet of information was a copy of my Y chromosome polymorphisms, a certificate of ancestry authenticating that my polymorphisms matched with the two groups of people. There was also a full-color map that illustrated my ancestral origins, along with an "African Ancestry Guide to West and Central Africa" that describes the countries and the people. I had expected to have just one country and one people, but was told that "while the groups differ socially and culturally there are people within them who share a common genetic ancestry."

Now, how does he fit these results into his life?

All of this leads to more questions about identity. Instead of being a black- or African-American, am I now a Nigerian-American or an Angolan-American? Or am I, more accurately, a Nigerian-Angolan-American? These questions stem just from having my paternal lineage checked. What would my maternal lineage reveal? Should I acquire this knowledge and what it reveals, there will still remain much I do not know.

So, he continues the other ways in which he is tracing his heritage, because:

Any knowledge of my family tree pertaining to nation of origin and ethnicity is incomplete without names, dates and specific places.

Mr. Harris, I think, is different from many parents. Rather than fighting the teachers who assigned the "find your heritage" projects for his daughters, he thought of creative ways to help them and--even though the results of his DNA test did not form part of his younger daughter's project, she did well. He comments on the teachers this way:

And as to these projects that spark such uncomfortable feelings, I don't fault the teachers for assigning them. Knowing one's origins can instill pride and be an important way to study history and learn respect for other cultures, as well as one's own. But in this quest for identity and affirmation that all groups have, it is important to recognize that finding the country of one's origins is still a particularly arduous task for blacks.

It is also important for teachers to recognize this as a rich teaching opportunity to show the similarities and differences between students. It is an opportunity to shed light on the larger role that slavery and race have played in shaping American history and cutting off the lights to a specific African connection - not only for blacks with deep American roots, but also blacks with roots in the Caribbean who would face similar challenges if asked to name the country in Africa that they were from and the ethnic people from whom they are descended.

In commenting on the man from the PBS African-American series, he writes:

I was skeptical about those results, since this man looked more black - albeit light-skinned - than white or Asian. But I knew that DNA analysis has shown that all humans have more in common in our biological composition on the inside than the physical differences on the outside. I also knew race was a sociological definition more than a biological one. In addition, I knew years ago geneticists had traced the first original human species on Earth to a woman in Africa.

You can read the full article at,0,1387989.story?page=3&track=mostemailedlink

Marie Godfrey, PhD

What is maternity testing?

We've frequently heard of paternity testing--determining if a specific person is the father of a child. Generally, this type of test is used to establish paternity for child-support payments.

But, how often do we hear of maternity testing? While I was checking on a story my daughter told me about a woman whose biological children matched each other more than they matched her (on DNA testing), I happened on an ad from a company touting maternity testing.

As the company website explains,

The DNA maternity test is useful for individuals who need to determine maternity in a vast number of situations. The most common situations that we see at our laboratory are as follows:

1. IVF: The DNA maternity test is often ordered by mothers who have had a child through in vitro fertilization to ensure that the IVF laboratory had used the correct embryo for implantation.

2. Adoption Reunification: Adult children who were put up for adoption often search for their biological mothers. Once found, most reunified mother child pairs choose to conduct a DNA maternity test to ensure that the correct mother and child have been reunified.

3. Hospital mix ups: After birth, babies often all look very similar. Our laboratory frequently experience situations where hospital staff believe that they may have mixed up the tags on the babies and either the hospital or the children's mother proceed with DNA maternity testing to ensure that a hospital mix up had not occurred.

They go on to describe the difference between a "legal" and a "just-for-information" test:

You have two choices for DNA maternity testing: legal and private. If you require the results of the DNA maternity test for use in court, you must attend an appointment for chain of custody sample collection to ensure court admissibility. However, if you require the results of the test for your own knowledge or to help you to decide what step to take next, the private home DNA maternity test would be the best choice for you because it is fast, discreet, and just as accurate as the legal test.

Hmmmm, now we finally get into the piece I was interested in in the first place: accuracy and reliability. To support their assertion that the test "will conclusively determine whether an alleged mother is the true biological mother of a child", they state:

Our testing laboratory is accredited by both the International Standards Organization (ISO) and the American Association of Blood Banks (AABB). These accreditations provide full guarantee of accurate, straightforward, and reliable results.

ISO is the documentation of practices performed in a business and has to do with management documenting what they do and doing what they document. It is not necessarily a guarantee of accuracy or reliability. The AABB provides standards for the testing and handling of blood, not specifically for DNA testing. It is interesting to me that their list of AABB Accredited Parentage Testing Facilities, updated December 20, 2005, does not include the company offering the maternity test.

So, if you have $260 and want to determine whether X is the mother of Y, you can get one of these tests. I've intentionally not included the company name here, because I'm not into advertising. Also, I've been reading a book lately on the validity of DNA testing--note that I said validity, not accuracy or reliability--and I'm not as gullible as I used to be. More on the statistics of test results in another blog. Meanwhile, I'm still looking for the news story I went after in the first place.

Marie Godfrey, PhD

What is the cost of genetic testing?

Would you ever consider ordering something online that you don't know the cost of? Apparently the laboratory that controls the market for BRCA (breast cancer) genetic testing expects potential customers to do just that.

If you go to Myriad's website and click on the button for ordering a genetic test for BRCA1 or BRCA2, or both, you'll fill out a form asking for information on one or more of the tests available. No cost is indicated; the site doesn't even say, "information is free; you won't be charged until you request an actual test". If you go to the page on reimbursement, you'll find a statement that the average person who uses insurance coverage can expect to pay $300.

Ummm, according to the articles I've read on cost, there may be a zero missing from that number--particularly if you have no insurance or choose not to use it. Tests can be as low as $300, but could also be as high as $3000. The formal "test request form" you send in with your blood sample asks for credit card and/or insurance information, but again, no numbers are given. The information page on reimbursement adds the following warning:

Canceling the Test
If you cancel a test within 48 hours of the blood draw, you will not be charged. However, after 48 hours, you are responsible for payment, even if you decide not to receive test results.

Sounds to me as though you really need to have your ducks in order before you "decide to have a test". Of course, you can use the 800-number; perhaps you'll reach a person who knows and will tell you how much the test costs.

Marie Godfrey, PhD

Blog Entry | Genetic testing

Gene tests a waste of money

The following information comes from Ian Sample, a science correspondent for The Guardian, a British newspaper. To read the full article, go to,,1697962,00.html

The Natiional Health Service has a number of single-gene tests available. These tests, look for mutations know to be associated with specific diseases such as cystic fibrosis. The new tests--described by Sample--claim to measure a person's susceptibility to diseases such as cancer and Alzheimers. Sample quotes Zimmern and Khoury, who participated in recent meetings discussing genetic testing:

"Even if there's theoretical evidence the genes are linked to a disease, that's often far too little to go on. There's not one shred of evidence that these tests benefit human health," said Ron Zimmern, director of the public health genetics unit at Cambridge University.

Muin Khoury, director of genomics and disease prevention at the prestigious Centres for Disease Control and Prevention in Atlanta, told the meeting: "There are more than 1,000 genetic tests on the market now, with many available over the internet, but suffice it to say we have no idea whether they are of any value." In many cases, a person's family history was a better indicator of future disease, he said.

Genewatch, a lobby group that watches over announcements related to genetics, is preparing a report on 11 genetic tests that claim to help a person tailor diet to genetic test results. And scientists in the Iceland group recently announced plans to develop a test for a gene reportedly linked to  type II diabetes. In response, Sample quotes his two sources:

 Even if such a test is made available, the advice to those testing positive will be the same as that given to all - eat sensibly and take more exercise, said Dr Khoury. "If that's the case, why buy a test?"

"What line should society take?" asked Dr Zimmern. "Should it say that if it doesn't harm you, you can allow the snakeoil salesmen? Or does society have an obligation to make sure the consumer is only buying tests that work? I think industry has to get together with government to set up studies to test whether these tests make any difference to people's health."

Members of a Capstone class at Portland State University assisted by geneforum are reviewing websites as part of their efforts to produce a "Consumer's Guide to Genetic Testing". If you have a site you'd like them to investigate or a question you'd like to ask, let me know.

Marie Godfrey, PhD


What should primary care physicians keep in mind about genetic testing?

Genetic testing has made the world of the family physician much more complicated and controversial. You should expect greater demands from your patients for genetic testing, especially as more tests for diseases become available through the mail or Internet.

As the primary care provider (and if genetic counselors and medical geneticists are not readily available), you and your patient(s) should go though an information gathering phase. This will help you and your patient ascertain whether genetic testing is necessary and/or advisable. In addition, when genetic counselors or medical geneticists are consulted, the information you have collected from your patient will be very important.

Below are some general things to keep in mind:

  • Genetic testing is complex, and communication of risks and uncertainties must be attended to thoughtfully and critically. Consumers and healthcare professionals need to know that genetic information can have profound side effects i.e., possible insurance consequences, work discrimination, psychological side effects such as people’s perceptions of their body, family, and future. (from GDP transcript)
  • Genetic tests are quite variable. Some tests are quite clear cut and predictive and other aren’t at all. (GDP)
  • Genetic tests provide information about family members and relatives. Disclosure of family information can often be helpful to family members but also can lead to breaches of confidentiality that must be considered and addressed proactively. Health care professionals have a duty to warn. In other words, privacy regulations underscore the provider’s obligation to maintain the confidentiality of medical information. However, if the information represents a significant, imminent and remediable threat to another person’s health, the provider may need to consider whether s/he has a duty to contact the person (or in the case of a minor, the minor’s guardian or legal representative, in the absence of explicit permission.
  • Health care providers need to provide opportunities for their patients to express their reasoning and associated emotions in regards to testing. The most important goals of the counseling discussion is to ensure that patients have considered all aspects of the testing opportunity to his/her satisfaction in making this decision.
  • All diagnoses carry with them other social, cultural and psychological meanings as filtered through the patient’s viewpoint and health model. The physician must simultaneously assess the medical information to be conveyed, the patient’s baseline perspective and comprehension of the new information, the psychosocial implications of the diagnosis for the patient, and the support systems the patient has. A strong-patient doctor relationship can help the patient gain a perspective on his/her disease.

Urban legends and genetic testing

I heard a news item on the Today show, which suggested that a group of workers are being forced to take a DNA test so that a prankster at a hotel can be identified. After trying to track this down, I suspect it is another of the urban legends related to human body products and food contamination. Odd that it would be aired on Today--and not findable in searches of the MSNBC website.

This--and an e-mail I received on ovarian cancer--sent me to a website I had not explored before. This site, and a number of others apparently, tracks stories known as urban legends. these stories are intended to evoke emotion and they generate their own following, when the stories are passed along from one person to another.

I searched the site ( for genetic testing, genetic, and DNA and found a surprisingly low number of items. The only one of interest to human genetic testing relates to paternity testing. Recently, some newspapers suggested that as many as 30% of all fathers are raising children not their own. This urban legend is somewhat tricky because it involves statistics--that stuff so many of us don't understand.

First, the real percentage is closer to 1%--not 30%, so don't run out and get a DNA test for your children and yourself. Second, the fallacy of the numbers lies in the same selective population used in forensic testing. When the only people tested are those under "suspicion", the numerical "proof" of paternity or guilt is much greater than when the general population is tested. If 2 or 3 people are tested, and there's a DNA match between the children (or the victim) and one of the two or three people, this is often considered proof. If 1 million people were tested, the proof would be less sure.

So, don't believe everything you hear or read. It may be an urban legend, in which case you can check Internet sites to see if it turns up. Or, it may be that only a few people were tested. Or--it could be true! Whatever the situation, have fun with the story, but investigate deeper before you make any life-changing decisions. 

 Marie Godfrey, PhD

What's the difference between DNA profiling and genetic testing?

DNA profiling looks at repeated nucleotide sequences within inactive genes. Examining as few as 16 different locations in human DNA can yield very clear information on whether or not a DNA sample belongs to person A. This is how DNA analysis is used in forensic profiling. This is also what is now commonly referred to as a "DNA fingerprint". By the way, the techniques have changed in the past 10 years or so, so results from 10 years ago may not be comparable with results of today's analyses.

Paternity testing done by profiling requires samples of the purported father and the "child" (that is, the presumed offspring). The mother's DNA is not necessary, but can be helpful. In this case, a sample from each person can be profiled and the profiles compared visually or electronically. Alternatively, the samples can be tagged with two different fluorescent markers, mixed and analyzed--looking for similarities and differences. Lineage testing (maternal, paternal, ethnic) uses the latter technique, which is more prone to error.

Genetic testing for particular gene sequences (active DNA, for example, a particular cancer gene) can be done with DNA directly or by examining DNA's "expression"--messenger RNA. Here, the techniques are much more complex and subject to error and variations in interpretation.

Then we get to the most complex and weakest aspect of genetic testing--inferring phenotype (appearance, function, likelihood of disease, etc.) from genotype. Here, there may be lots of literature and hype, but little clear connection between a test and the prediction of a person's future. Even "known" genes may have many variants and results without supportive genetic counseling can cause more harm than good. 

Marie Godfrey, PhD 


Who regulates the quality of genetic tests?

I attended two excellent teleconferences sponsored by the Genetic Alliance.

One gave information on CLIA (Clinical Laboratories Improvement Amendment) and CLIAC (the committee who provides recommendations) and the move to implement a genetic testing speciality within its regulation. CLIAC recently gave notice that it will be proposing standards for genetic testing under the CLIA law. CLIAC reviewed all the comments it received on the public notice and is currently formulating a proposed rule to be released for comment at the end of this year or early next year. Learn more about CLIA and about CLIAC.

One of the things explained during the conference was why standards take so long to develop and implement. Rules--the word is a formal one--are the standards that tell how a law will be implemented. For example, the Clean Air Act regulates activities of manufacturers, cities, etc. through a series of rules. The rule proposed through CLIAC (as part of the Centers for Disease Control and the Department of Health and Human Services) will describe how genetics laboratories offering services to the public must function. You probably don't know it, but everytime a physician sends out a sample of your blood for testing, it must go to a CLIA-certified labroatory. So, physicians who send out samples for genetic testing to a CLIA-certified lab are just following the existing general rules about clinical tests. CLIAC's intent is to identify the specific needs of genetic testing that are different from other clinical laboratory testing and functioning.

The ones who don't have to follow the CLIA rules are the ones who receive test requests over the Internet or by phone directly from consumers. If you check the sites advertised along the side of your screen when you check out genetic testing laboratories, you'll find plenty who do not list CLIA certification as one of their qualifications.

The second teleconference I attended discussed information on CETT--the Collaboration, Education, and Test Translation Program from the Office of Rare Diseases (ORD). In May of 2004 this group met for the first time to discuss quality testing for rare genetic diseases. they met last in September 2005 and are currently accepting applications for new genetic tests. Their objectives are to foster the development of new genetic tests, help groups translate tests from research to clinical practice, and educate the public about rare genetic diseases. The special feature of this group is the strong sense of collaboration among clinical laboratories, researchers, and patient advocacy groups. You can learn more about CETT at

The Genetic Alliance helps patient advocacy groups with all aspects of their work, including working with patients, with media, education, obtaining and dispensing funding, and many other opportunities. They are very involved in public policy, as is geneforum, the group sponsoring this website and blog.

Marie Godfrey, PhD


Genetic testing regulations needed

I have been working lately with the Genetic Alliance to formulate priorities for their action. The group serves as advocates for patients with a wide variety of genetic conditions. As part of their work, the Genetic Alliance recently sent the following letter:

Letter to CMS Administrator Mark McClellan regarding genetic testing quality

February 28, 2006

Dear Dr. McClellan:

On behalf of the Genetic Alliance board of directors, I am writing to urge you to issue proposed regulations for a genetic testing specialty under the Clinical Laboratory Improvement Amendments (CLIA) of 1988.

As knowledge of genetics continues to grow and the number of genetic tests made available to consumers increases, the U.S. government has an obligation to maintain a regulatory framework that ensures the safety and utility of the tests being conducted without limiting the accessibility of those tests.  To this end, in 2000 the Centers for Disease Control and Prevention (CDC) issued a Notice of Intent indicating that the Centers for Medicare and Medicaid Services (CMS) would be issuing a proposed rule based on stakeholders’ comments received and elucidated by the CDC.  More than five years later, no such rule has been issued, and the genetic testing specialty that was recommended has not been established. 

The Genetic Alliance board of directors believes that the establishment of a genetic testing specialty under CLIA is a necessary first step toward a regulatory system that encourages new technology and ensures safety and accuracy when those technologies are implemented.  Since the CDC issued its Notice of Intent more than five years ago, the number of genetic tests available has increased substantially.  Today, there are more than 900 diseases for which genetic tests are clinically available, several hundred used in research, and even more in various stages of development.  Without a genetic testing specialty, CLIA cannot adequately ensure that consumers receive genetic testing services that are safe, accurate, and clinically useful.

I urge CMS to act quickly by issuing proposed regulations for a genetic testing specialty under CLIA.  I welcome the opportunity to meet with you and discuss these issues in further detail.

Sharon F. Terry, M.A.
President and CEO

 There are two key aspects to testing quality: 1) performing the tests accurately and within established regulations and 2) having tests that actually test what they say they're testing. The first aspect is addressed by the letter above. The second aspect, developing and making tests available for both rare and common genetic conditions, is also an Alliance focus.

If you're interested in the activities of the Genetic Alliance, check out their website at:  

Marie Godfrey, PhD 

Who has oversight of genetic testing?

You may be surprised to learn that the government agency most responsible for "regulating" genetic testing is the FTC--the Federal Trade Commission. This group regulates advertising. If a company claims to do something they do not do, the FTC can intervene. However, the FTC has little control over the Internet and--contrary to its normal influence on other advertising--does not link with the FDA (Food and Drug Administration) to require that advertisers send out "Dear Doctor letters" to correct false advertising that appears on television or in print.

What controls are there?

The FDA, which oversees prescription and generic drugs as well as foods, does not review and approve genetic tests unless they are true medical devices--something that either must be provided by a physician (such as a heart pump) or directly diagnoses a condition (such as home HIV testing). The FDA considers most genetic testing "home brew". The FDA's extent of involvement then becomes the same as its involvement in any food or drug--no applications and approvals, but the FDA can insist that a product be removed from store shelves (e.g., ephedra) if it is shown to potentially cause harm. Psychological harm from false advertising is not included.

DNA tests and genetic tests, by the way, are considered "nonmedical tests", meaning that the results do not indicate a clinical condition that can be dealt with in a physician's office or hospital. Medical tests include blood cell counts, chemistry analysis, urinalysis, tissue examination. Newborn genetic testing is medical testing, since the tests look for the accumulation of specific substances in the blood. DNA testing (forensic, paternity, genealogical) and genetic testing for specific genes and/or mutations are nonmedical tests.

The most strict oversight of genetic testing laboratories comes from organizations that accredit and approve laboratories. Among these are the AABB (American Association of Blood Banks), CAP (College of American Pathologists), CLIA (Clinical Laboratory Improvement Amendments and CLIAC, Clinical Laboratory Improvement Amendments Committee), and ISO (International Organisation for Standards, specifically ISO 17025 for laboratories). All of these organizations offer voluntary accreditations for testing laboratories; only AABB specifically identifies accreditation for DNA testing (but not other genetic testing). The following URLs get you to the home page of these organizations:

None of these organizations has any regulatory clout; they can only refuse or revoke accreditation. The closest to regulatory clout is the CDC (Centers for Disease Control), a federal agency that is primarily concerned with the spread of infectious diseases (influenza, sexually-transmitted, food poisoning).

Some states require that forensic or parental DNA testing be conducted by specific laboratories for the results to be considered acceptable in legal cases.

The Genetic Alliance, a group coordinating the activities of hundreds of support groups for specific genetic conditions, recently requested that standards for genetic testing be set and enforced by CMS (Centers for Medicare and Medicaid Services).

If you're thinking of DNA or genetic testing, check whether the company you are considering advertises accreditation by one or more of these organizations. Then--if you can--check to see whether the accreditation is current. This is possible for AABB by going to . None of the other organizations provide similar lists, but you can ask the company you are interested in by calling their toll-free number.

Whatever you do, remember the old adage: Buyer beware!

Marie Godfrey, PhD

Who will benefit from pharmacogenetics research?

Pharmacogenetics is the study of inherited differences in response to pharmaceutical drugs. One of the interesting issues lately has been the "discovery" that people of African-American heritage seem to react differently to drugs intended to reduce high blood pressure. Since the problem is more common among these people than those of other ethnic heritages, there seems to be some benefit to designing "ethnic" blood pressure medication.

What's funny to me is that, since the discovery of this effect, I haven't seen any drugs approved and advertised specifically for African-Americans. Perhaps this is the kind of result James Randerson was thinking of in the article I discussed yesterday, Risks of Online Genetic Testing.

Pharmacogenetics looks like a good thing. With it, doctors could match treatments to patients to speed up cures and minimise negative reactions to medication. Old drugs abandoned because of adverse effects in some test patients could be revived, if the effects' genetic basis can be understood. Ultimately, say evangelists for personalised medicine, your treatment will be tailored to your own genetic makeup. We would see a plethora of individualised panaceas.

As with genetic testing--which I discussed yesterday--Randerson feels the hype doesn't match reality. First, there's no incentive for pharma companies to develop genetic tests for response to an existing drug--unless the test could result in greater use of the drug.

For example, the experimental Alzheimer's drug rosiglitazone, currently in the final stages of clinical development does not appear to help patients in general; but when targeted at specific genetic subgroups it does seem to be effective. The result, to me, sounds like an attempt to save a drug that might otherwise be scrapped after costly clinical trials. I found a similar situation with a drug used against brain tumors: a genetic test--not available to the general public--may determine which patients are more likely to have successful results with the drug. If the test were more widely available, it might give more hope to those expected to be more susceptible to the drug.

For the second reason Randerson feels the hype doesn't match reality, there's the process of drug development. Now, think carefully--if you were a pharma company executive or board member, would you be likely to push further development of a drug that only affects a portion of the potential population of patients? Not likely. This situation is the case sometimes followed by a company who learns that their prospective new drug is metabolised by a family of enzymes in the liver called the cyp450 genes, which break down drugs and toxins. Because the cyp450 genes exist in different forms in different people, the new drug is not likely to be developed further if it is destroyed very quickly by the most common forms of the enzyme.

Yes, there are a fewdrugs on the market that are tailored to the patient's phenotype: the anti-cancer treatment herceptin, which works differently depending on which genes are expressed in the tumour, is in the vanguard; and drugs for psychiatric conditions are also likely to receive the pharmacogenetic treatment. I haven't checked into whether the geneticly determined susceptibility to these drugs was identified pre- or post-development.

So, according to Randerson, neither genetic testing nor pharmacogenetics is apt to dramatically change the medical landscape in the near future. Do you have a comment or opinion to add?

Marie Godfrey, PhD

Will genetic testing lead to a return to an interest in eugenics?

I've just finished reading an article in the Johns Hopkins Magazine, April 2006, called Raymond Pearl's "Mingled Mess". I had no idea who the person was, or what the mingled mess might be, but the word "eugenics" in the following struck me.

He made the case for eugenics, with "Breeding Better Men". . .then later went on to renounce the entire movement. Are there lessons for modern genetics? 

The article examined the history of eugenics, hoping to "illuminate difficult issues facing today's scientists as they navigate the ethically periolous terrain of modern genetics." 

Although I found the story of Pearl interesting, I was more interested in the end of the article, where the author Melissa Hendricks asks, "Is genetics . . . on its way down a slippery slope toward a new form of eugenics?"

DNA day, April 25, celebrates the report of the structure of DNA and the completion of the Human Genome Project. And many of the news articles will mention one of the latest proponents of eugenetics, James Watson-the co-discoverer of the DNA double helix. Watson has argued for genetically engineering the human germ line (eggs and sperm) to improve human beings and, he hopes, "lead to a society with fewer shy, ugly, or stupid children."

Geneforum, in its survey on gene doping, discusses the possibilities of producing better athletes by changing or adding genes. Another geneforum survey asks, "would you change your child's DNA if you could?"

All of these indicate to me that the public harbors a not-so-hidden thought that we can improve the human species by altering its DNA. Eugenics has this "good" intention. But, it also has another intention--to decrease the number of "defective" or "bad" people.

Hendricks asks, "how can we avoid a day when a future generation looks back and views today's time as a period when genetics was used unethically?"

One way to do this is to actively discuss and debate these issues. Another is to foster legislation and professional guidelines.

Kathy Hudson of the Johns Hopkins Genetics and Public Policy Center cautions against the "single-minded focus on genetics as an explainer for everything. The over-attention to genetics can mislead people because they're not taking in the full spectrum of environmental factors."

As the focus on genetic testing and identifying "the gene for . . " continues, we should also remember that there is no one gene for X, Y, or Z. The human genome contains so many modifying factors and the environment has so much effect on the expression of genes that a simple genetic code, trapped on a diagnostic chip is not the be-all and end-all of our future. Genes matter, but so do other things we tend to ignore. Let's broaden our minds and our approaches.

Marie Godfrey, PhD 

Would you donate your DNA?

YOU might donate blood to save someone's life. But, would you donate your blood, your DNA, and your most intimate medical secrets on a promise that it may help save a life years from now?

These are the questions asked in an article today in the New Scientist

Once again, the public is being asked to donate the code that makes each of them a unique individual to a study intended to link genes and diseases. Once again, the promise is cures of devastating diseases. Would you join the group that will donate a small blood sample?

You have a while to decide--unless you live in the UK or in Iceland. The project called Biobank is not expected to start in the US in the near future--it's still in the planning stage, according to the New Scientist. Here's how the Iceland, UK, and US projects differ:

The Icelandic studies focused on spotting gene variants in people who already have specific diseases or family histories of disease, and comparing them with those of healthy people. The proposed British and American studies are far more ambitious, as they will recruit people who are healthy at the outset and then wait to see which of them falls ill. Scientists will record environmental factors, such as people's diets, in real time, rather than relying on patients remembering what they ate in the past, in the hope this will help reveal factors other studies miss.

In addition,

...the organisers of the US project are considering using microchip-based devices such as rings, bracelets and body patches to keep a continuous check on volunteers' heart rate and blood oxygen levels. Participants' cellphones could be rigged up to transmit data on physiology and diet, and microchip-based sensors could be placed around the body to record other data such as exposure to radiation, or even what they consume, including alcohol and tobacco.

The £61 million UK Biobank project, funded by the UK Medical Research Council, the Wellcome Trust and the government health ministry, will rely more heavily on health records and diagnoses of family doctors to keep tabs on its subjects. It will also take detailed recordings of subjects' body fat, blood pressure and weight, use lifestyle questionnaires, and take blood and urine samples when people are recruited into the study.

Are we getting ever closer to carrying our genetic codes on our foreheads and transmitting to some "secure" database our actions, environment, and even our thoughts?

Marie Godfrey, PhD 





Stem Cell Guide

The Stem Cell guide is integrated with the Genetizen – a blog authored by experts in the field of bioethics, genetics, and healthcare who comment on and analyze current developments in the field.

A key feature of this guide is its peer-review capability i.e., the ability for visitors to contribute and interact with the content. Comments are enabled at that bottom of every page. However, if you'd like to submit your own story click Your Stories on the menu bar.

Dolly's anniversary--Is human cloning still a realistic fear?

I missed the 10-year anniversary of Dolly-the-sheep's birth last week (on the 21st of February). Maybe you did, too. Wonder what happened to the supposed cloned babies born to the alien-spawned wierdos?

Anyway, cloning--we learn in a free article from Nature online--"is beginning to change tact."

But as the decade passed and a menagerie of other mammals was cloned , no cloned human babies appeared. What did occur, and what moved the ethical debate in an unforeseen direction, was the isolation of human embryonic stem-cell lines by James Thomson and his colleagues at the University of Wisconsin, Madison.

With that achievement, it became clear that broad research avenues could be opened up by cloning human embryos to extract stem cells from them. These could then be used as disease models and drug targets, or to develop therapies involving tissue transplantation.

But as quickly as scientists recognized the potential of such opportunities, political and ethical opponents seized on the notion that allowing cloning in research would only ensure that it would one day be used for reproductive purposes. What's more, they argued, research cloning was a fundamental assault on human dignity, because it creates, manipulates and destroys human embryos for scientific ends.

"What really took place is that the stem-cell debate replaced the cloning debate," says Caplan. "Because there was — and is — a tremendous interest in trying to clone embryos, not people."

In spite of the South Korean scandal, where fradulent claims of cloned human embryos caused considerable concern, reproductive cloning still is the center of hopes for embryonic stem cell research. The research, most of it taking place with private money because of bush's halting of the production of new stem cell lines with federal money, continues. Meanwhile, according to Nature,

. . . opposition to cloning babies has remained firm through a decade of polling, at about 90%, but polls in recent years have shown that 60–70% of the public supports research using stem cells obtained from discarded embryos in fertility clinics.
"As people learn about the possibilities for new approaches to disease, they see the embryonic stem-cell issue in a different framework," says Jonathan Moreno, a bioethicist at the University of Pennsylvania, who co-chaired a committee that crafted 2005 research guidelines for the US National Academies. "They see it as medical research that could help them or their families."
The notion of cloning embryos to be a source of stem cells — as opposed to using embryos left over from fertility treatment that are slated for destruction anyway — is much more controversial. It remains a touchy political issue in many countries, including the United States, and is approached gingerly by public and private funders alike.
In the near term, "I rather doubt that we will see very much [cloning] in the context of embryonic stem-cell research in the United States", says Moreno. But he thinks advances are likely to come in countries where the work is seen as more acceptable, such as Britain, where groups led by Wilmut at the University of Edinburgh and Alison Murdoch at the International Centre for Life in Newcastle upon Tyne have been given permission to pursue it. (Murdoch's group has already cloned at least one human embryo, but has had no luck extracting stem-cell lines.)

The research, and the interest, goes on. If you wonder what animals have been cloned--famous and not--check out the excellent cloning timeline in the Nature article, with photographs of cloned animals. 

Marie Godfrey, PhD




Mitt Romney and stem cell research

In at least one of the sources I read about Romney's latest speech on stem cells, he was quoted as supporting the stem cell lines "approved" by President Bush in 2001. Romney stated that these lines did not come from embryos. Thus, presumably, they didn't violate his anti-abortion position.

Mr. Romney, you're wrong. The approved stem cell lines--the ones identified by Bush as being created before August 2001--ARE embryonic stem cell lines. They were derived from embryos "discarded" by families who did not want to use them for implantation and possible development into a human being.

Perhaps some of Romney's campaign staff should be reading this Genetizen blog. There's lots of accurate information on stem cells available here.

Marie Godfrey, PhD


Newest stem cell developments

I learned about the newest stem cell advance--converting human skin cells into stem cells--the day before the news was released. I didn't write about it as the news was breaking because I needed time to digest what the newspapers and online news sources were saying. So, now I'm ready.

I'm pleased to see that almost all articles inserted at least one note of caution about how long it will be before the discovery could translate into treatments for human conditions. Typically, however, the caution appeared in the "weakest" position in the articles, at the end of the carryover to an inner page. This, of course, is the place readers rarely reach.

I did find one of Yamanaka's comments particularly appropriate. He was quoted in an Associated Press article as saying:

We need to come up with some sort of rules about what kinds of cells can be used and to what ends. Otherwise someone may put this technology to use in troubling ways.

You can help be part of that "rule-making" by reading trustworthy news releases and asking questions. You may not think all this relates to you now, but I can assure you that you will be deeply interested some time in the future.

Many articles declared the breakthroughs a vindication of Bush's policy halting federal funding for research with "new" stem cell lines, as well as his refusal to approve bills returning all or part of the funding. Some are surely saying, "See, I knew all along that adult stem cells are the way to go." Meanwhile, the scientists working with embryonic stem cells--for example, those recently produced from the monkey--are saying that the research must continue. Their general message is that no one knows which path will be successful in producing the "cure" for paralysis, diabetes, or other conditions.

This research says nothing about adult stem cells, including stem cells extracted from umbilical cords. Although the cells that became stem cells started out as adult skin cells, they were genetically altered by transferring into them 4 genes known to turn cells "on" or "off". A virus was used to make the transfer. After the genes had been inserted into the cells, the cells changed in some as-yet-undetermined way, becoming capable of differentiating into cells other than skin cells. How far these cells have been grown was not discussed in the general media.

Because these cells now contain new genes, not to mention the viral genetic material that probably is no longer intact or capable of producing a virus, we don't know how they would behave if injected into a human--even the human from which the cells came in the first place. And, no one's likely to try introducing similar cells into humans until much more research has been done. Also, there's some destruction of the DNA in the process of conversion, so this may affect future development of the new stem cells.

So, the titles such as "Long Wait for a New Hope" and "Ethicists hail stem cell breakthrough" have to be tempered, as usual, with reality. Meanwhile, let's celebrate the fact that human stem cells have been created--in two different laboratories working independently--without destroying human embryos. This feat is truly a wonder in itself!

To read more about the research, consult a newpaper or online source you trust for accurate reporting or go directly to the articles in the peer-reviewed professional journals Cell (click on Yamanaka under Announcements at top right of home page) and Science News (only the abstract is available without cost).

Marie Godfrey, PhD

Stem-cell issue more about politics than science

Normally, I expect a very conservative viewpoint from the Deseret News, one of Utah's church-owned newspapers. That's why I was surprised to see a liberal op-ed piece yesterday. Even more interesting, it came from Ellen Goodman in Boston--another conservative place. Perhaps minds are opening in the US. Here's what Ellen had to say:

“By now you may be forgiven for suspecting that science is tinted — if not entirely tainted — by politics. The arguments over evolution and global warming alone are enough to make anyone believe that we have red and blue science as well as red and blue states.

But nothing has been quite as polarizing over the past six years as the controversy over embryonic stem cells. Stem cells have been a defining issue even among politicians who can't define them.

So it is no surprise to see a genuine, bona fide scientific breakthrough put through the political spin cycle. Last week, a trio of competing labs from Japan to Massachusetts rolled back the biological clock in mice and turned ordinary skin cells into the equivalent of embryonic stem cells. The research raised the possibility that we might eventually be able to make stem cells without destroying human embryos.

This announcement came on the eve of a House vote to allow federally funded scientists to study cells from leftover frozen embryos at fertility clinics. And this disharmonic convergence put the politicians into orbit.

It tweaked conspiracy theories by embryonic stem-cell proponents such as Democratic Rep. Rahm Emanuel, who suggested the irony of having a breakthrough announced every time a bill comes up for a vote. Opponents such as Richard Doerflinger of the U.S. Conference of Catholic Bishops speculated on a higher intervention in his favor. As he said, half-jokingly, "God is telling us he is there!"

The bill passed anyway and now heads to the White House. If the president goes through with his veto, you can bet he'll cite this research as proof that, see, told you so, we don't actually need to use human embryos.

Before this happens, let me offer a brief refresher course in Stem Cells 101. What scientists are trying to do is to take an ordinary cell from the human body and persuade it to become, say, a heart muscle cell or a brain cell or a liver cell to fix whatever ails us. But they don't know how to do it.

The reason researchers use embryos is not because they want to run a recycling program for IVF clinics. Nor because they have a passion for wedge issues. It's because the embryo can do what scientists can't do yet. The embryo contains signals that tell the cell to switch on the program of development. But to harvest stem cells, the embryo has to be destroyed.

If, as this latest breakthrough suggests, researchers can reprogram ordinary body cells to act like stem cells in the friendly laboratory mouse, they may eventually be able to avoid the use of embryos at all. Which would be good news all around.

But anyone who says we don't need human embryos in this scientific pursuit has forgotten a couple of things. First of all, we don't know if the new research will work with people. Second, this breakthrough actually began with scientists studying the genes in mice embryos. Anybody who wants to repeat the work in humans will have to use human embryos to learn the same mechanics.

In short, we'll need to use human embryos even to help us eventually stop using human embryos. Pop quiz, anyone?

The stem-cell debate has been embedded in abortion politics from the get-go, locked into an argument over the moral status of an embryo. Even as science progresses, the politics stay stuck.

Today, as cell biologist Kenneth Miller notes, one side claims "we can do everything we need with adult stem cells." The other side says that "only embryonic stem cells have the full therapeutic potential that we need to save lives." In fact, adds Miller, "Neither side is right. We are far too early in the game to know."

How early? Bioethicist Art Caplan compares us to folks "standing at Kitty Hawk watching the Wright brothers and asking if you can ever get to the moon." Didn't we need a little federal help for that liftoff?

At this early stage we should be pursuing every promising route of research. As Caplan says, "If I were in a wheelchair, I'd want to put my chips on as many numbers as possible."

As the bill heads to the White House, the question is not whether research on embryonic stem cells will go forward. It is going forward in foreign countries and private companies and states that support it from Massachusetts to California. It's whether it will go forward with federal funding and oversight and accountability.

For once in this administration it would be swell to see science trump its bully of a brother: political science.”

I don't normally quote an entire piece from the media, but this one seemed particularly easy to read. I thought you might enjoy reading it.

Marie Godfrey, PhD

The commercial side of stem cell R & D

Yesterday, I wondered what has been happening in stem cell research and development (R & D) during the past few years. Today, I was reading about a stem cell conference to be held in San Diego in February and found a Stem Cell Market Analysis Fact Sheet. The document is intended for investors, physicians, and comapnies involved in stem cell research.

Consistent with my self-imposed rule of not advertising specific companies, I won't name any here; but I will post the entire fact sheet in the Stem Cell Forum section of the website. You can find it by searching for "stem cell market analysis" from the home page. I'm intentionally not providing a link here.

So, here's some of what the fact sheet includes:

Stem Cell Company Revenues:

2005: $ 974,000

2006: $ 16,405,000

2007: $ 36,856,000 estimated

2016: $8.5 billion estimated (new forecast to be released at Stem Cell Summit on Feb. 12)

Estimated number of c ompanies developing stem cell products: 200+ worldwide

Market value of all public stem cell companies: $1.655 billion

Current applications for stem cell products

  • Replacement for bone harvesting in spine fusion surgery
  • Bone growth and void fill in fresh fractures
  • Bone growth and void fill in non-union fractures

Stem cell products expected to be approved by the FDA in the coming 36 months

  • Prochymal (treatment for graft vs. host disease)
  • Two (possibly three) treatments for damaged heart muscle due to heart disease
  • Chondrogen (repair of knee cartilage)

Other details:

  • A single dose of adult stem cells for therapeutic use usually has a minimum of 104 million viable stem cells.
  • The most common source of commercial stem cells in the United States is donor-derived adult stem cells.
  • Donor-derived adult stem cells are available as either minimally manipulated donated tissues or as cultured donor cells.

The fact sheet also describes projected sales figures, number of people likely to be customers, and what other types of treatements serve as competition.

So, we know there's money out there. Now, what's the scientific evidence that these treatments work?

Marie Godfrey, PhD


US Senate passes stem cell bill

The Senate has once again passed a stem cell bill whose primary function is to allow federal funding of stem cell lines created after August, 2001. The ban was placed by President Bush and has been upheld since then, limiting federally-funded embryonic stem cell research to approximately 24 or fewer stem cell lines.

President Bush is expected to veto the bill.

I recently found a 2005 edition of National Geographic in which the subject of stem cell research was thoroughly discussed--with the usual excellent photographs. I think what surprised me most was that only one item dated the article: Hwang's announcement of producing a stem cell line from adult cells by nuclear transfer had not been made or declared completely false. Other than that, not much seemed to be new.

Whether the slow progress in embryonic stem cell research is because of the science itself or the lack of federal funding cannot be clearly determined. Two facts have held up though:

  • Adult stem cell research is producing few instances of "cures" of debilitating diseases in spite of a number of tests. Success is still based on individual cases, but there is promise.
  • Embryonic stem cell research, still  controversial and abhorent to many, has a long way to go before it can fulfill the promises made--if it ever does.

What's your opinion???

Marie Godfrey, PhD

Stem cells hot again

The US House of Representatives passed a bill January 24th very much like last year's bill to allow federal funding for embryonic stem cells derived from embryos that might otherwise be discarded.

The usual rhetoric reined on the Hill. The only development identified as new was the recognition that stem cells have now been derived from amniotic fluid. These cells presumably come from the developing embryo and would thus be as "potent" as any embryonic stem cell.

Again, we're into rhetoric and into the subject I am accused of always focusing on--words. In this case, the questions are two:

1. How can someone tell whether the cells removed from the amnionic fluid belong to the embryo/fetus and not the mother (adult)? Inaccurate identifications are not uncommon in pre-natal diagnosis.

2. Are the cells more embryonic earlier in development--as opposed to later? Where is the boundary between embryo and fetus? After all, fetal stem cells derived from the umbilical cord are actually adult cells, not embryonic (

What really are the differences between embryonic and adult stem cells?

All the old arguments are being brought out. Which makes me wonder: hasn't anything new happened in embryonic/adult stem cell research in the year and a half since the previous stem cell funding bill was introduced and passed in the House? Besides the Hwang problems in South Korea, has anything new happened since President Bush first imposed the ban on federal funding for embryonic stem cells derived after whatever date it was years ago?


Let me check into that again. All I see is a new adult-stem-cell cure number--73 vs. the older 65. If adult stem cells are so much better than embryonic stem cells, why so few new cures (if, in fact, the cures are anything more than cancer recovery treatments not on the earlier list)? If embryonic stem cells are so much better than adult stem cells, why no progress in the the past five or so years? I can't believe federal funding has all that much to do with it. After all, federal funding has continued on the embryonic stem cell lines "approved" by Bush.

I'm eager to learn what questions and opinions others have. Won't you add a comment to this entry?

Marie Godfrey, PhD


Adult vs. embryonic stem cells

Everyday I scan many pages of information on stem cells, including the Google Alerts I get 5-10 times a day. Sometimes, I get fired up enough to send my own comment to an article or opinion. Yesterday, I responded to an opinion claiming that 65 diseases can be successfully treated with adult stem cells and referring to an article in the Washington Post. Since I have been diligently exploring the comparison of adult and embryonic stem cells, I read the referenced article only to find no reference to 65 diseases. My opinion was posted (I guess), but I received no response to my comment that statements with faulty or no corroboration are what make ordinary people so confused about stem cell research.

Today, while following leads, I tripped over a site I should have found long ago ( For some reason, it didn't turn up on Google or Yahoo searches. Anyway, lo and behold, the right side of the screen has 65 vs. 0 for adult stem cells vs. embryonic stem cells. The list of diseases/conditions successfully treated by adult stem cell transplants looked very familiar and, as I linked to the reference list, I knew why. These were the very references sent to me as her own by the head of an organization opposed to embryonic stem cell research. Funny thing, none of the pages had their original footers identifying the real source of the references.

We at Geneforum have been using a blog--rather than just posting chunks of information or providing a list of today's 15 news releases for several reasons. Among them is the comments capability. Anyone reading the blogs can comment or ask questions. Another is to provide an experts analysis of the voluminous, often contradictory, information available primarily through the Internet. I try, as much as possible, to give you the source of the information unless its available from many different sources. And what I write, unless I add a statement such as taken directly from, is original. I read, dig, and read some more until I am fairly confident that what I am posting is accurate and untainted as much as possible by my personal opinions.

Thanks for reading, and please refer others to this site.

Marie Godfrey, PhD

65 diseases/conditions treated by adult stem cells

Here are the categories and specific diseases/conditions that states are successfully treated by adult stem cells.


  • Brain Cancer
  • Retinoblastoma
  • Ovarian Cancer
  • Skin Cancer: Merkel Cell Carcinoma
  • Testicular Cancer
  • Tumors abdominal organs Lymphoma
  • Non-Hodgkins lymphoma
  • Hodgkins Lymphoma
  • Acute Lymphoblastic Leukemia
  • Acute Myelogenous Leukemia
  • Chronic Myelogenous Leukemia
  • Juvenile Myelomonocytic Leukemia
  • Cancer of the lymph nodes: Angioimmunoblastic Lymphadenopathy
  • Multiple Myeloma
  • Myelodysplasia
  • Breast Cancer
  • Neuroblastoma
  • Renal Cell Carcinoma
  • Various Solid Tumors
  • Soft Tissue Sarcoma
  • Waldenstrom's macroglobulinemia
  • Hemophagocytic lymphohistiocytosis
  • POEMS syndrome

Auto-Immune Diseases

  • Multiple Sclerosis
  • Crohn's Disease
  • Scleromyxedema
  • Scleroderma
  • Rheumatoid Arthritis
  • Juvenile Arthritis
  • Systemic Lupus
  • Polychondritis
  • Sjogren's Syndrome
  • Behcet's Disease
  • Myasthenia
  • Autoimmune Cytopenia
  • Systemic vasculitis
  • Alopecia universalis


  • Heart damage


  • Corneal regeneration


  • X-Linked hyper immunoglobuline-M Syndrome
  • Severe Combined Immunodeficiency Syndrome
  • X-linked lymphoproliferative syndrome

Neural Degenerative Diseases/Injuries

  • Parkinson's disease
  • Spinal cord injury
  • Stroke damage

Anemias/Blood Conditions

  • Sickle cell anemia
  • Sideroblastic anemia
  • Aplastic Anemia
  • Amegakaryocytic Thrombocytopenia
  • Chronic Epstein-Barr Infection
  • Fanconi's Anemia
  • Diamond Blackfan Anemia
  • Thalassemia Major
  • Red cell aplasia
  • Primary Amyloidosis


  • Limb gangrene
  • Surface wound healing
  • Jawbone replacement
  • Skull bone repair

Other Metabolic Disorders

  • Osteogenesis imperfecta
  • Sandhoff disease
  • Hurler's syndrome
  • Krabbe Leukodystrophy
  • Osteopetrosis
  • Cerebral X-linked adrenoleukodystrophy

The majority of these are treated by bone marrow transplants, the category of stem cell treatment discussed previously in 7 parts in this blog.

Marie Godfrey, PhD 

Using adult stem cells for heart problems

A recent news article reminded me that "adult" stem cell research continues while the issue of federal funding of embryonic stem cell research remains unchanged. The article I saw came June 2 from WTAE Channel 4 Action News in Pittsburg and highlights Richard Howell's receipt of stem cells in an effort to reverse the heart failure that "left him too weak to leave his living room and at risk for complications, including organ failure."

Howell is one of a number of patients in experimental stem cell studies. This one is taking place at the Cleveland Clinic, recently a recipient of a $24 million grant--along with Case Western Reserve University (Case) and its partners, University Hospitals of Cleveland (UHC), and Athersys, Inc.

According to Dr. Stephen Ellis of The Cleveland Clinic: "Mr. Howell received 18 separate injections encompassing about 200 million cells. By giving these cells, the hope is the heart muscle will function better, contract better." The cells came--not from bone marrow, as might have been expected, or even from peripheral blood cells, but--from thigh muscle cells.

One of the fascinating aspects of the source of the stem cells is that cardiac muscle and thigh muscle cells are different types and designed for different functions. One type does not generally convert into the other. The news article did not explain how stem cells--rather than fully developed muscle cells--were identified and removed for transplant.

So far, Howell--who couldn't walk to the mail box--is "out of his living room and on the beach" 6 weeks after surgery. Howell agreed to take the risks--including possible arrhythmias or potentially lethal rapid heart rhythms--even though it may take months, or even years, before anyone knows if the experiment was successful.

The news article can be found at Details about the Cleveland Clinic are accessible from their home page:

Marie Godfrey, PhD

Using cardiac adult stem cells to repair heart tissue

One of the strong messages from the stem cell meeting in San Francisco over the weekend was that stem cell research needs to show some new successes soon. For many reasons, embryonic stem cell research is unlikely to provide new treatments or curescat least not in humanscwithin the next couple of years. Even though some clinical trials are planned, these are generally Phase I trials, which are intended to test the safety not the efficacy of stem cell treatments.

A new federal program focused on cell-based therapies that could be ready for clinical trials testing within two years announced Sept 29 that my favorite institution Johns Hopkins is one of three centers to receive five-year funding ($12 million) from the National Heart, Lung, and Blood Institute as a Specialized Center for Cell-Based Therapy for Heart, Lung and Blood Diseases (SCCT). Hopkins is the only center dedicated to new therapies for heart problems. The SCCT initiative will focus on two major projects.

Marbin's group will study the potential of using a patient's own cardiac stem cells to repair heart tissue soon after a heart attack, or to regenerate weakened muscle resulting from heart failure. By using a persons own adult stem cells instead of those from another donor, there would be no risk of triggering an immune response that could cause rejection. Marb¡n was recently successful in replicating large numbers of cardiac stem cells in the lab within a very short time, as little as four weeks. The stem cells, extracted from healthy parts of hearts not otherwise damaged by heart attack, grew to form clusters, called cardiospheres, which contain cells that retain the ability to regenerate themselves and to develop into more specialized heart cells that can conduct electrical currents and contract like heart muscle should.

Hare's group will evaluate adult mesenchymal stem cells (the stem cells in bone marrow that do not form blood cells) as a potential therapy to heal damaged hearts. Last year, his research in animals showed that stem cells harvested from one pig's bone marrow and injected into another pig's damaged heart restored heart function and repaired damaged heart muscle by 50 percent to 75 percent after just two months of therapy. In March 2005, Hare and other researchers began a Phase I clinical trial to test the safety of injecting adult stem cells at varying doses in patients who have recently suffered a heart attack. In total, 48 patients will participate in this study, which involves several sites across the country, including Hopkins. Results are not expected until mid-2006. Because mesenchymal stem cells are in an early stage of development, they, too, avoid potential problems with immune rejection, in which every humans immune system might attack stem cells from sources other than itself.

Marie Godfrey, PhD

Embryonic stem cell lines accumulate changes in their genetic material over time

Wow! Google Alerts finally sent me an article that discusses both the genetics of stem cells and my alma mater, The Johns Hopkins University. At the same time, the article feeds into my current discussion of the usability of adult vs. embryonic stem cells.

The notice I received connected to and was summarized with the following clip:

An international team of researchers has discovered that human embryonic stem cell lines accumulate changes in their genetic material over time.

The researchers' work is described in the Sept. 4 online edition of Nature Genetics.

Anirban Maitra and Dan Arking, two of the authors and members of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins state:

Embryonic stem cells are actually far more genetically stable than other stem cells, but our work shows that even they can accumulate potentially deleterious changes over time. Now it will be important to figure out why these changes occur, how they affect the cells' behavior and how time affects other human embryonic stem cell lines.

So, should we continue restricting funding of embryonic stem cell research to lines existing 4 years ago? Should all stem cell transplants be freshly-harvested adult stem cells? What happens with stem cell lines developed from stored umbilical cord cells? Hmmm, once again, more questions than answers.

Marie Godfrey, PhD

Leads on question of adult vs. embryonic stem cell potential

Since I have not yet created a template for my blog entries, I return to old ones to make the font, spacing, etc. the same. Today, I happened to stumble on my July 3 blog and see that I have been wrong about Frist's changes of mind and when they occurred. His most recent to back the removal of federal funding restrictions on embryonic stem cell research is his second switch, as I have been saying. But, the first switch from support to banning occurred back in 2001 after Bush restricted federal funding, not in April of this year. I had the date incorrect.

This morning's (6 August 2005) Google Alerts brought me an article from WorldNet Daily, Grants Pass Oregon, written by Kelly Hollowell, JD, PhD, Senior Strategist at the Center for Reclaiming America. The alert read: A detailed list of supporting references is available on request to my e-mail address below, as is a list of adult stem cell applications for 65 human diseases. Had another portion of the article been chosen for the alert, such as her quotes from Frist, I might never have checked out the article. As it was, I read it finding a discussion countering Frist's use of unique to describe embryonic stem cell capabilities. Hollowell states:

According to more than 15 recent publications in leading and peer-reviewed scientific journals, adult stem cells have the same pluripotency and/or capacity to multiply as embryonic stem cells.

The most recent and groundbreaking publication, by Dr. John Huard, director of the Growth and Development Laboratory at Children's Hospital of Pittsburgh, confirms that adult stem cells have the same ability as embryonic stem cells to multiply. This publication appears in the July 2005 edition of Molecular Biology of the Cell. The paper is appropriately under consideration for Molecular Biology of the Cell paper of the year.

Other data clearly demonstrate the ability of adult stem cells to form heart, liver, kidney, muscle, brain, nerve, insulin-producing, hair, skin, lung, retina, intestinal and spleen cells. The data also demonstrate that adult stem cells have the ability to regenerate damaged tissue.

I responded to the article immediately, adding some comments of my own, and requested the list of references, which she promptly sent. Of course, I also invited her to check out Geneforum and add her comments to the discussion.

I'll be reviewing as many articles as I can, so I can digest the information she references and bring you a summary of what I find. These references are a perfect source for my last blog entry question: how do adult stem cells and embryonic stem cells compare in potential? Unfortunately, searching MedLine or Google scholarly for successful stem-cell treatments has been frustrating. Thank you, Dr. Hollowell.

Marie Godfrey, PhD

Opposition to embryonic stem cell research cites 65 diseases cured by adult stem cells; are they right?

David A. Prentice, a scientist with the conservative Family Research Council is one of the people advocating tight restrictions on embryonic stem cell research. According to an article in the July 15th Washington Post and a letter to the editor of Science magazine, Prentice's claims that adult stem cells have at least as much medical potential as embryonic cells are not supported by even the references he gives in his examples.

Shane Smith of the Children's Neurobiological Solutions Foundation in Santa Barbara, Calif.; William B. Neaves of the Stowers Institute for Medical Research in Kansas City, Mo.; and Steven Teitelbaum of Washington University in St. Louis went through Prentice's footnoted documentation and concluded that most of his examples are wrong. For example:

  • A study cited by Prentice as evidence that adult stem cells can help patients with testicular cancer is in fact a study that evaluates methods of isolating adult stem cells.
  • Similarly, a published report that Prentice cites as evidence that adult stem cells can help patients with non-Hodgkin's lymphoma does not address the medical value of those cells but rather describes the best way to isolate cells from lymphoma patients and grow them in laboratory dishes.
  • And Prentice's reference to the usefulness of adult stem cells for patients with Sandhoff disease -- a rare nerve disorder -- is "a layperson's statement in a newspaper article".

"All told, the scientists concluded, there are only nine diseases that have been proved to respond to treatment with adult stem cells." (Washington Post).

The Post quotes from the Science letter as follows:

By promoting the falsehood that adult stem cell treatments are already in general use for 65 diseases and injuries, Prentice and those who repeat his claims mislead laypeople and cruelly deceive patients.

Prentice, in a brief voice message left for a Post reporter, is quoted as saying, "I appreciate them pointing out some of the things . . . that need to be changed and updated." But, the Post reports that "he accused the letter writers of 'mental gymnastics' by focusing narrowly on proven therapies, as opposed to the large number of diseases for which the value of adult stem cells is now being tested."

The issue of adult vs embryonic stem cell research has been discussed here in the Genetizen blog several times. To see these entries, adult stem cells in the search box on this page.

Marie Godfrey, PhD

Alternative sources of stem cells doesn't pass House

Overlooked in the hype about Bush's veto of "stem cell enhancement bill", which started out as H.B. 810, is the third of the stem cell bill package: S.2754. This bill is intended to direct NIH to fund research to derive human pluripotent stem cell lines using techniques that do not knowingly harm embryos. S.2754 is also known as the Santorum bill.

The Senate passed this bill unanimously (by counting yeas and nays) and turned the bill over to the House for its first consideration. On 18 July, the bill failed to pass, not being agreed to in the House. A motion was made to suspend the rules and pass the bill failed by yeas and nays 273 to 154 (a 2/3 majority is required).

I cannot tell whether the Senate-passed bill is still alive.

One possible reason for problems in the House maybe the bill (HR 5526 IH) the House introduced 6 June with a similar purpose, although--as far as I can tell, the bills are identical.

Marie Godfrey, PhD

Bush vetoes bill intended to remove restrictions on federal funding of stem cell research

Bush's veto of the bill known as H.B. 810, or the stem cell enhancement bill, is the first veto cast by the President of bills delivered to him from Congress. The New York Times online reported the veto about an hour ago.

Bush, "surrounded by scores of children born as a result of an embryo-adoption program and their parents", made the following statement:

This bill would support the taking of innocent human life. Each of these human embryos is a unique human life with inherent dignity and matchless value. These boys and girls are not spare parts.

In an interesting note, the Times reported:

. . . one element was missing [from the White House ceremony]: a flourish of the pen that Mr. Bush typically uses to sign a measure that he likes. The president had already signed his name on the veto before appearing in public. The actual signing was not photographed because, Mr. Snow said beforehand, Mr. Bush did not think it would be appropriate.

No official statement was made on whether an override vote would be taken.

Marie Godfrey, PhD

All 3 stem cell bills pass Senate

Just a few minutes ago, the last (H.B. 810)--and most controversial--of the three stem cells debated in the Senate passed 63 to 37. According to the summary shown on the C-SPAN2 screen, this bill "broadens spending for embryonic stem cell research". Actually, what it does is remove the limitations now in force; no additional money is allocated in the bill. Since the House had already passed this bill (14 months ago), the bill now goes to President Bush. If he vetoes it, as he has declared, the 63 votes would not be enough to override the veto; 67 votes are needed.

The other two bills relating to stem cell research (no fetal farming and investigate alternative ways of making embryonic stem cell lines), as expected, passed-- unanimously. These will now go to the House, where they are also expected to easily pass. President Bush will likely sign these two bills.

One question arose in my mind as I was watching the voting: if so many spoke in favor of retaining the limits on federal spending for embryonic stem cell research why did so few (zero) vote against the bill that directs NIH to investigate alternative ways of creating embryonic stem cell lines? Wouldn't this money also be "taken away" from adult stem cell research"?

Anyway, the drama is over in the Senate. Let's see what President Bush does.

Marie Godfrey, PhD

ALL the bills

Just in case you think the list of active bills (in the previous blog entry) covers everything, here is the full list of bills relating to stem cells and cloning introduced into the House (ih) or Senate (is) and the actions taken since then. Each abbreviation, eg (ih), is defined after each title. The ones marked with * are on the current active legislation list.

H.Con.Res. 166 (ih) Expressing the sense of the Congress that the Federal Government should not infringe on State or private programs that fund embryonic stem cell research. [Introduced in House]

H.R. 162 (ih) To authorize the use of Federal funds for research on human embryonic stem cells irrespective of the date on which such stem cells were derived, and for other purposes. [Introduced in House]

H.R. 222 (ih) To prohibit the expenditure of Federal funds to conduct or support research on the cloning of humans, and to express the sense of the Congress that other countries should establish substantially equivalent restrictions. [Introduced in House]

H.R. 596 (ih) To amend the Public Health Service Act to establish a National Cord Blood Stem Cell Bank Network to prepare, store, and distribute human umbilical cord blood stem cells for the treatment of patients and to support peer-reviewed research using such cells. [Introduced in House]

H.R. 810 (eh) To amend the Public Health Service Act to provide for human embryonic stem cell research. [Engrossed in House]

H.R. 810 (ih) To amend the Public Health Service Act to provide for human embryonic stem cell research. [Introduced in House]

H.R. 810 (pcs) To amend the Public Health Service Act to provide for human embryonic stem cell research. [Placed on Calendar Senate]

*H.R. 810 (rds) To amend the Public Health Service Act to provide for human embryonic stem cell research. [Received in the Senate]

*H.R. 1357 (ih) To amend title 18, United States Code, to prohibit human cloning. [Introduced in House]

H.R. 1650 (ih) To amend the Internal Revenue Code of 1986 to allow tax credits to holders of stem cell research bonds. [Introduced in House]

*H.R. 1822 (ih) To prohibit human cloning and protect stem cell research. [Introduced in House]

H.R. 2520 (eh) To provide for the collection and maintenance of human cord blood stem cells for the treatment of patients and research, and to amend the Public Health Service Act to authorize the C.W. Bill Young Cell Transplantation Program. [Engrossed in House]

H.R. 2520 (ih) To provide for the collection and maintenance of human cord blood stem cells for the treatment of patients and research, and to amend the Public Health Service Act to authorize the C.W. Bill Young Cell Transplantation Program. [Introduced in House]

*H.R. 2520 (rds) To provide for the collection and maintenance of human cord blood stem cells for the treatment of patients and research, and to amend the Public Health Service Act to authorize the C.W. Bill Young Cell Transplantation Program. [Received in the Senate]

*H.R. 2541 (ih) To amend the Public Health Service Act to provide for the expansion, intensification, and coordination of the activities of the National Institutes of Health regarding qualifying adult stem cell research, and for other purposes. [Introduced in House]

H.R. 2574 (ih) To amend the Public Health Service Act to provide for a program at the National Institutes of Health to conduct and support research on animals to develop techniques for the derivation of stem cells from embryos that do not harm the embryos, and for other purposes. [Introduced in House]

H.R. 3144 (ih) To amend the Public Health Service Act to provide for a program at the National Institutes of Health to conduct and support research in the derivation and use of human pluripotent stem cells by means that do not harm human embryos, and for other purposes. [Introduced in House]

H.R. 3444 (ih) To amend the Internal Revenue Code of 1986 to provide credits against income tax for qualified stem cell research, the storage of qualified stem cells, and the donation of umbilical cord blood. [Introduced in House]

*S. 471 (is) To amend the Public Health Service Act to provide for human embryonic stem cell research. [Introduced in Senate]

*S. 658 (is) To amend the Public Health Service Act to prohibit human cloning. [Introduced in Senate]

S. 681 (is) To amend the Public Health Service Act to establish a National Cord Blood Stem Cell Bank Network to prepare, store, and distribute human umbilical cord blood stem cells for the treatment of patients and to support peer-reviewed research using such cells. [Introduced in Senate]

S. 876 (is) To prohibit human cloning and protect stem cell research. [Introduced in Senate]

S. 1317 (is) To provide for the collection and maintenance of cord blood units for [Introduced in Senate]

*S. 1317 (rs) To provide for the collection and maintenance of cord blood units for [Reported in Senate]

S. 1520 (is) To prohibit human cloning. [Introduced in Senate]

S. 1557 (is) To amend the Public Health Service Act to provide for a program at the National Institutes of Health to conduct and support research in the derivation and use of human pluripotent stem cells by means that do not harm human embryos, and for other purposes. [Introduced in Senate]

*S. 1557 (is) To amend the Public Health Service Act to provide for a program at the National Institutes of Health to conduct and support research in the derivation and use of human pluripotent stem cells by means that do not harm human embryos, and for other purposes. [Introduced in Senate]

In Thomas (the source of the list), the list is identified as Last updated: January 14, 2005, however the list includes actions in response to Hurricane Katrina, so it is probably up-to-date.

Marie Godfrey, PhD

Stem cell bills to be debated in Senate July 17

Here are the summaries of the bills being considered:


Title: A bill to amend the Public Health Service Act to prohibit the solicitation or acceptance of tissue from fetuses gestated for research purposes, and for other purposes.
Sponsor: Sen Santorum, Rick [PA] (introduced 6/13/2006) Cosponsors (2)
Related Bills: H.R.5719
Latest Major Action: 6/13/2006 Referred to Senate committee. Status: Read twice and referred to the Committee on Health, Education, Labor, and Pensions.

Fetus Farming Prohibition Act of 2006 - Amends the Public Health Service Act to prohibit any person or entity involved in interstate commerce from: (1) soliciting or knowingly acquiring, receiving, or accepting a donation of human fetal tissue knowing that a human pregnancy was deliberately initiated to provide such tissue; or (2) knowingly acquiring, receiving, or accepting tissue or cells obtained from a human embryo or fetus that was gestated in the uterus of a nonhuman animal. Imposes fines and/or imprisonment for violations of this Act.


Title: A bill to derive human pluripotent stem cell lines using techniques that do not knowingly harm embryos.
Sponsor: Sen Santorum, Rick [PA] (introduced 5/5/2006) Cosponsors (4)
Related Bills: H.R.5526
Latest Major Action: 6/27/2006 Senate committee/subcommittee actions. Status: Committee on Appropriations Subcommittee on Labor, Health and Human Services, Education, and Related Agencies. Hearings held.

Alternative Pluripotent Stem Cell Therapies Enhancement Act - Amends the Public Health Service Act to require the Secretary of Health and Human Services to develop techniques for the isolation, derivation, production, or testing of stem cells that are capable of producing all or almost all of the cell types of the developing body and may result in improved understanding of treatments for diseases and other adverse health conditions, but are not derived from a human embryo.

Requires the Secretary to: (1) provide guidance concerning the next steps required for additional research; (2) prioritize research with the greatest potential for near-term clinical benefit; and (3) take into account techniques outlined by the President's Council on Bioethics and any other appropriate techniques and research.


Title: To amend the Public Health Service Act to provide for human embryonic stem cell research.
Sponsor: Rep Castle, Michael N. [DE] (introduced 2/15/2005) Cosponsors (200)
Related Bills: S.471
Latest Major Action: 6/6/2005 Read the second time. Placed on Senate Legislative Calendar under General Orders. Calendar No. 119.

5/24/2005--Passed House, without amendment. (There is 1 other summary)

(This measure has not been amended since it was introduced. The summary has been expanded because action occurred on the measure.)

Stem Cell Research Enhancement Act of 2005 - Amends the Public Health Service Act to require the Secretary of Health and Human Services to conduct and support research that utilizes human embryonic stem cells, regardless of the date on which the stem cells were derived from a human embryo, provided such embryos: (1) have been donated from in vitro fertilization clinics; (2) were created for the purposes of fertility treatment; (3) were in excess of the needs of the individuals seeking such treatment and would never be implanted in a woman and would otherwise be discarded (as determined in consultation with the individuals seeking fertility treatment); and (4) were donated by such individuals with written informed consent and without any financial or other inducements.

Requires the Secretary to: (1) issue final guidelines to carry out this Act within 60 days; and (2) submit annual reports on activities and research conducted under this Act.

Title: To amend the Public Health Service Act to provide for human embryonic stem cell research.
Sponsor: Rep Castle, Michael N. [DE] (introduced 2/15/2005) Cosponsors (200)
Related Bills: S.471
Latest Major Action: 6/6/2005 Read the second time. Placed on Senate Legislative Calendar under General Orders. Calendar No. 119.

2/15/2005--Introduced. (There is 1 other summary)

Stem Cell Research Enhancement Act of 2005 - Amends the Public Health Service Act to require the Secretary of Health and Human Services to conduct and support research that utilizes human embryonic stem cells, regardless of the date on which the stem cells were derived from a human embryo. Limits such research to stem cells that meet the following ethical requirements: (1) the stem cells were derived from human embryos donated from in vitro fertilization clinics for the purpose of fertility treatment and were in excess of the needs of the individuals seeking such treatment; (2) the embryos would never be implanted in a woman and would otherwise be discarded; and (3) such individuals donate the embryos with written informed consent and receive no financial or other inducements.

You can check out additional details by going to and making your selection of the bills on the righthand side of the screen (schedule for Monday, July 17).

Marie Godfrey, PhD

Was stem cell action in Senate strictly political?

I watched many hours of the stem cell debates in the Senate Monday and Tuesday, taking a break mainly when the Senate went to lunch on Tuesday.

Actually, one had to watch only once in a while, because much of the information presented was repeated over and over. I believe the whole discussion was strictly a political move on the part of both Democrats and Republicans. Democrats and Republicans alike pushed to have the measure discussed so that the public could see them on stage making their pitch. All are eager to look good to their constituents and others and most really believe what they were saying.

The "deal" to put 3 bills together and to vote on the newer ones before the older H.B. 810 gave everyone an opportunity to speak on behalf of two bills considered not controversial. Then, each could give their spin to the controversial bill. Meanwhile, though, everyone "knows" that President Bush will rescue the millions or billions that might be spent on stem cell lines created after August, 2001 by vetoing the bill.

The following statements have been around for a long time (certainly since 2001):

  • Treatment with adult stem cells (and cord blood stem cells) has shown positive results for 65 (68, 70, 72?) diseases [the number varies, but no one ever mentions that almost all represent infusions of blood-forming cells in patients treated for cancer]
  • Embryonic stem cell research has not "cured" a single disease [note the difference between "positive results"--the new mantra--and "cure". This statement is true; however, clinical studies of embryonic stem cells are just beginning, and those funded by the federal government can only be done with 6 (4?) "healthy" but mouse-contaminated cell lines. Studies with adult stem cells (eg, bone marrow) have been going on for decades.]
  • Creation of embryonic stem cells requires the killing of embryos. [Yes, removal of the inner cell mass from a very early embryo does mean that the embryo will never develop into a human being. If you agree that this is killing an embryo, the rest of the text here doesn't apply. However, no blastocyst is guaranteed life: many embryos do not succeed in implanting when they are put into a woman's uterus; some embryos are "killed" when too many embryos implant and develop, and a multiple-birth is risky; many embryos are allowed to die (from storage beyond a couple of years); many embryos are discarded because they are not needed by the people who supplied the egg and sperm.]
  • Some people have adopted embryos (having one or more introduced into a woman's uterus and allowed to develop). These are the Snowflake children. [The numbers naturally have increased since 2001.]
  • Stem cells from a source other than the person receiving them can cause immune reactions in the recipient. [Speakers generally accused the non-favored type of stem cells of causing this problem. Yes, there is always a chance of rejection, graft-vs-host reaction, and other immune problems when foreign cells are introduced. However, The stem cells taken from a person and injected back into that person have the same genetic components; if the person developed a genetically-influenced condition, giving back the same genes cannot help forever. Cord blood cells are not the answer: Most adults didn't save their umbilical cord cells, and if they did, the cells wouldn't be healthy in storage over more than 5 years or so. There are very few stem cells in the umbilical cord, so even an infant or child who was originally attached to the cord cannot get more than one stem cell treatment without growing the cells in test tubes.]

Here are some of the newer arguments for and against embryonic stem cell research:

  • Stem cell lines have been created by "alternative" means--one of the three bills requires Congress to spend money to further research these methods. [Did you know that one method creates a defective embryo and then uses it as a source for stem cells and that another method removes one cell from an 8-cell embryo and uses this to develop a stem cell line? Both techniques are new, not fully tested, and other possibilities certainly exist.]
  • Embryonic stem cells injected into mice create teratomas (cancers). [One speaker said, "that's how scientists tell the cells are stem cells, because they are capable of growing in the new location"; another said "we can never control these teratomas, which will kill the recipient"--these are not direct quotes.]
  • Adult stem cells have been used to create new heart tissue and repair damaged spinal cords. [This work is still early, only on individual patients generally outside the U.S. and not in controlled clinical studies, and neither is a "new" use of stem cells. The stem cells used--either hematopoietic (blood-forming) or connective tissue (also generally from bone marrow)--could be expected to develop into the resulting tissues.]
  • Stem cell lines have been created from eggs and sperm (germ cells). [I need to research this one further; since eggs and sperm have only 1/2 the chromosomes of other cells, this statement cannot be totally true. The research must refer to cells in the body that can develop into eggs and sperm. Also, in women, all egg cells have already been formed at birth so it is hard to tell what cells are being described.]

I think that list gives you enough-perhaps more than you wanted to know--about some of the arguments presented during Senate presentations. You can read everything, including all information a Senator asked to have "put into record" by going to and accessing the Daily Digest--and then the detailed text--for each day.

Marie Godfrey, PhD

Creating stem cell lines without destroying embryos

The recent announcements that a commercial company has been able to create stem cell lines without destroying embryos has hit most of the news programs and other outlets--with the expected feedback.

The technique involves the removal of a single cell from an 8-cell embryo (outside the human body) and culturing this cell to produce stem cells. The arguments against "destroying embryos" presumably do not apply because the embryo is not harmed in the process. You may remember that harvesting cells from a more-developed blastocyst--after the embryo has developed into a hollow ball with an inner cell mass--does destroy the embryo.

So, why 8 cells?

  • The previous cell division--which doubles the number of cells in the embryo--was made by a 4-cell embryo. One cell of an embryo at this stage could become a fetus--with perhaps 3 other babies created from the other 3 cells, giving the parents quadruplets.
  • Cell division is so rapid in the newly fertilized egg that "catching" an embryo at the 8-cell stage requires careful attention. Presumably, some of the embryos could be any number of cells prior to formation of the blastula. This is why the news reports tend to say "8-to-10-cell stage". Also, the cells do not necessarily divide simultaneously.
  • There are many reports that cells at early stages of division may not be genetically identical. Rapid cell divisions in the embryo may sometimes produce cells with very slightly different DNA content.
  • In pre-implantation genetic diagnosis, cells have been successfully removed from embryos of 8 cells or more without harming the embryo. This one is a bit tricky to prove, though, since more than one embryo so examined is usually introduced into the uterus for development into a fetus. If only one of 2-4 embryos develop into a fetus, there's no way of knowing why the others did not so develop.
  • Smoke and mirrors--there appears to be less public concern about an embryo with one cell removed than there is about a blastula with its germ cells removed. Good publicity for a commercial company and eventually great profits from newly-created cell lines.

Here are some considerations you might not have thought of--whatever your opinion about embryonic stem cells and their creation:

  • What will happen to the rest of the embryo? If it will be discarded, or used for potentially creating additional stem cell lines, this technique is no different from any technique that destroys an embryo.
  • Is the technique useful only for people planning in vitro fertilization and pre-implantation genetic diagnosis? If so, would two cells have to be removed--one for the genetic diagnosis and one for the stem stem line? Will removing two cells damage the embryo?
  • Will there be a market for embryos created solely for generating stem cell lines?
  • How will stem cell lines be created for diseases such as Alzheimers or other adult-onset conditions generally occurring when a person is no longer fertile?
  • If the embryo is yours, do you get the rights to any money made from the stem cell line(s) developed from that embryo?
  • If the method is so successful, how come only 2 cell lines could be created from 81 embryos?

Want to add some comments of your own? Please do.

Marie Godfrey, PhD

Geneforum Interview with Audrey Chapman: Bridge Over Troubled Waters

An Interview with Audrey R. Chapman
Director, Science and Human Rights Program
American Association for the Advancement of Science

by Mark Compton

Audrey R. ChapmanSince late in the Clinton Administration, the public debate over stem-cell research has often seemed less a dialogue than a shouting match between scientists and religious leaders. There are still some, however, who persevere in trying to keep communication channels open. And Audrey Chapman, Director of the AAAS Science and Human Rights Program, can certainly be counted as one of those.

As an ordained minister in the United Church of Christ who also happens to hold a Ph.D. in Political Science from Columbia University and serve on the staff of a major scientific organization, Chapman herself has a foot in either camp. And perhaps because of that, her extensive writings on genetics, stem-cell research and human rights strike a balance between a wide—and sometimes wildly varied—range of topics and perspectives.

Chapman's most recent book, Unprecedented Choices: Religious Ethics at the Frontiers of Genetic Science drew praise both from scientists and theologians. She also served recently as one of the lead authors of a report on stem-cell research co-published by the AAAS and The Institute for Civil Society. And later this year, she has another book scheduled for release: Designing Our Descendants: Potential and Limitations of Genetic Modifications.

[The views and opinions expressed by the participants in this interview are not necessarily those of Geneforum, and the publication of this interview should in no way be construed as an endorsement of those views.]

[Mark Compton]: Last September, in testimony before the Senate Appropriations Subcommittee on Labor, Health and Human Services, adult stem-cell researcher Dr. Curt Civin of the Johns Hopkins University School of Medicine observed: "Embryonic stem-cell research is crawling like a caterpillar. It may hold the key to expanding proven adult stem-cell therapies to many more patients, but administrative and technical barriers are impeding the progress of this vital research." How do you view that assessment?

[Audrey R. Chapman]: I'd say that's a fair assessment. Among those researchers who are particularly interested in tapping the potential of human embryonic stem cells, you'll find many who hold similar views. When President Bush first announced his policy on stem-cell research in August 2001, he indicated there were over 60 stem cell lines available, but it turns out there actually are far fewer than that. Many of the sources the President and the National Institutes of Health identified are in a very preliminary stage of development and may not even be valid human embryonic stem-cell lines. Secondly, many of the non-American sources—and the overwhelming majority of the lines President Bush identified as available come from outside this country—are quite reluctant to share their material in the US because of concerns over the possibility that the University of Wisconsin Alumni Association, which holds patents in this country on both the stem-cell research process and the products yielded by that process, might sue them for patent infringement. In fact, the estimates I've seen indicate that only between five and nine of the sources President Bush identified are actually available to scientists in this country. And there also have been delays in completing the reviews required as part of any application for federal funding. That's all gone quite slowly. So here we have a very promising area of research and a great many scientists interested in doing the work. And yet it's been very difficult to actually get any serious research initiated in laboratories throughout the country.

In amplification of your last comments, I'd like to observe that many advocates within the research and medical communities—as well as many patients' rights groups—argue that stem-cell research appears to represent our greatest hope for realizing advances in the prevention, diagnosis, and treatment of a broad range of devastating human diseases...most particularly, heart disease, cancer and various diseases of the nervous system, such as Parkinson's Disease, Alzheimer's Disease and Multiple Sclerosis. Do you consider those hopes to be well-founded? Or are they more the product of wishful thinking?

I certainly think the potential is there, but when you're at a preliminary stage of developing a technology, it's hard to know exactly what the results will be. And, by the way, I'd add diabetes to your list since juvenile diabetes is one of the few areas where it's been possible to raise substantial sums of money to fund private research. As a result, there's been a considerable effort to use embryonic stem-cell lines in an attempt to develop pancreatic-like cells capable of producing insulin.

It sounds as though you can appreciate and understand the frustration being expressed throughout the research community right now.

I can, and of course, I also recognize that we have a public policy, ostensibly, that allows federally funded research to proceed on those stem-cell lines isolated and made available prior to the President's August 2001 address. So I think another question that has to be asked is: Even if more such lines were available, would that be sufficient to allow researchers to develop these long-awaited cures? And there are numbers of scientists who say, "No."

But, as I see it, there are two major problems with the current guidelines for federal funding. The first is that the number of stem-cell lines currently available under those guidelines doesn't appear to offer sufficient diversity. Secondly, all the stem-cell lines that qualify under President Bush's policy were developed on mouse feeder layers—and that creates problems when it comes to using them in clinical trials for human therapies. There are approaches that have been developed subsequent to August 2001 that eliminate the need to use a mouse culture as a growth medium. So the more recently developed lines created with the help of those approaches aren't potentially contaminated with mouse viruses in the same way. But since they were derived after August 2001, they're ineligible for government-funded research.

In announcing those policy guidelines in August 2001, President Bush made it quite clear he didn't want the government to support the destruction of any further human embryos. That position, I take it, is one that's rooted in the religious view that human life begins at conception.

I wouldn't say "religious view." There actually is a wide diversity of viewpoints within the religious community about the moral and theological status of an early-stage embryo.

But I think we can probably agree that this particular view is rooted somewhere in the religious community.

Yes, among certain parts of the religious community.

Understood. So I wonder—at least where the question of stem-cell research is concerned—wouldn't that position tend to assign greater moral weight to the rights of the unborn than to those of the already born?

Yes, but I wouldn't even say "unborn." I find that to be a very problematic label when applied to frozen embryos in fertility clinics, which have a very, very low probability of ever being born. The embryos that are being proposed for derivation of embryonic stem-cell lines are ones that would otherwise likely be discarded. They're leftovers from couples' efforts to have children or they're of too low a quality to be implanted. The prospects that any of these would, at some subsequent date, be the basis for a pregnancy are almost nonexistent. So to even call them "potential human lives" is, I think, misleading.

I quite agree that any test that holds as absolutely sacred anything with even the slightest potential for life could only be fraught with all manner of problems and inconsistencies.

And for those who are really concerned about it, perhaps they should think about focusing their energies on regulating the fertility industry. There are already over 100,000 embryos in storage, with more likely to be created and stored.

Right. The vast preponderance of which are earmarked for disposal at some point.

Yes. Well, in Britain, in fact, there's a law that requires the destruction of any frozen embryos kept in storage longer than a few years. In the US, there don't appear to be any clear laws instructing clinics what to do. In many cases, the embryos just sit there because the fertility clinics have not been given any clear directives. And what has been suggested is that at the time couples first create the embryos, they should be offered protocols that allow them to indicate—should they end up deciding not to use some of the embryos for the purpose of starting a pregnancy—what's to be done with those leftovers. And one of the options such protocols could offer would be for donating the embryos for research purposes. But as far as I know, protocols of this type are not currently in widespread use.

I have to confess that I'm a bit confused about government policies that oppose research uses of leftover embryos from fertility clinics, but at the same time effectively turn a blind eye to the commonplace practice of discarding those very same embryos. Is that just ignorance on the part of the government? Or simply the function of a terribly convoluted moral position?

No. I think for a whole variety of reasons, legislators have been quite reluctant to even broach the topic of regulating the assisted fertility industry. And I consider that reluctance very unfortunate. As any regular reader of the news is undoubtedly already aware, there are many serious problems within that sector. We've had many instances, for example, where technologies have been introduced even though they haven't been adequately tested. As a result, humans and human reproduction are effectively being used as subjects for experimentation. And there also are all kinds of other unsavory practices that go on—which do a great disservice to those researchers who are totally honorable and moral about how they proceed on these matters. And as the assisted fertility industry continues to grow, those problems are just going to become larger and more complex.

So public health and the industry itself would probably benefit from a bit of regulatory oversight?

Definitely. Some of the current practices are chilling. For example, one fertility clinic in New Jersey has apparently taken women with mitochondrial disease or various mitochondrial deficiencies and then employed a technique that takes cytoplasm from a donor and uses it to augment the woman's own cytoplasm. By virtue of this approach, at least 30 children have apparently been born who have genetic resources derived from three sources—the mother, the father and the donor. Now, all of this has been done without first attempting careful experiments on animals to evaluate the procedure. And also bear in mind that the results are inheritable. So if these children grow up and have children of their own, they're going to be passing this genetic material—with all its unknown properties—onto generations of descendants.

Truly, this is the stuff of science fiction.

It really is the stuff of science fiction. And there are no regulations whatsoever to prevent people from doing this kind of thing.

And while we're on the subject of conflicted, inexplicable—and perhaps inexcusable—government stances, I'd like to ask about the controversy over the research uses of gonadal tissues derived from aborted fetuses. Although I understand that there are many who stand morally opposed to abortion, the fact is that there continues to be a regular and apparently unending supply of aborted fetuses. That said, why is there any opposition to utilizing stem cells derived from those fetuses for research applications? I mean, nobody seems to raise a ruckus over the use of tissues from other cadavers for research purposes.

Well, there are a number of problems with stem cells derived from aborted fetuses. First of all, you have to understand that there are two forms of aborted fetuses. Naturally aborted fetuses are aborted for a reason and that often proves to be related to abnormalities, including genetic problems. Developing embryonic stem-cell lines from an aborted fetus with irregular genetic composition would be very dangerous for future patients. Secondly, there's only a very narrow window of opportunity—of just a few days within the first eight weeks of conception—in which to obtain embryonic stem-cell lines from aborted fetuses. That means the woman would have to have the abortion in a hospital to allow the stem cells to be harvested from the fetus. Most spontaneous abortions do not take place in a clinic or hospital where the tissue could be recovered. And, in any event, the very little research that has been done with stem-cell lines from that source suggests they may be less plastic than the embryonic stem-cell lines derived from embryos that are only a few days old.

So the embryos look to be a more promising source?

Much more promising. Yes.

Bush's policies have caused some people to question the role that religious views should play in the formation of public policy—particularly in a country such as ours where the notion of a separate Church and State is central to our Constitution. In your estimation, what rights do you believe religious leaders should be free to exercise in the shaping of public policy?

I think they have a very important role to play. That may not be the answer you expected. But I am an ordained minister and I worked for the United Church of Christ national office for several years. In a country such as ours I think no single religious group should have veto power over public policy, but I believe that the wide range of religious communities should be consulted and that their voices should be heard. And then public policy should be made, taking those views into account. Right now, the religious community is one of the few sources of thoughtful, ethical viewpoints on new genetic and reproductive technologies. And they also represent concerns shared by many throughout the American population. What I find problematic is the fact that one perspective, for entirely political reasons, seems to enjoy veto power over policy. There are many groups within the religious community that are supportive of embryonic stem-cell research and do not believe that an early-stage embryo should be treated as having the same moral status as a fully formed human being.

Alright, so with reference to that veto power you say one group currently enjoys, what safeguards do you believe should be vigilantly observed so as to prevent certain religious leaders from exercising disproportionate influence?

It's not that religious leaders exercise disproportionate influence. There's just one narrow segment of the religious community that's managed to insinuate its way into political power. And, in our system, the only way to overcome that sort of thing is to try to counter that influence. I think there's just no other way. You can't start regulating who does and who doesn't participate in the political process. And when people find that they take strong issue with a particular stand, I see it as their responsibility to voice their objections and take action.

What would you see as the mechanism for that sort of expanded public involvement? We're talking about something larger than town hall meetings, I presume.

Actually, I think that would be an excellent place to start.

Any other mechanisms come to mind? Use of the Internet?

That would be a possibility, but what I think we really need is a crash effort to educate people. I would be very nervous about having a public debate based on misinformation. There are many opponents of genetic technologies who have sensationalized what they entail and have grossly misrepresented the implications of going forward with them. And this is very much in keeping with the way the abortion debate has proceeded. So I think it's important that you link public education with public discussion.

Agreed. But how best to plug public officials into the values and ideas their constituents ultimately manage to express through various forums? There seems to be quite the disconnect there, don't you think?

Well, I'm very pleased about the work that Geneforum is doing, both in terms of educating the public and informing policymakers about the core values expressed by their constituents. All of that, I think, represents an important step in the direction of trying to accomplish the sort of public involvement that's vital to the workings of a participatory democracy.

Great...and here's a topic that's certainly worthy of robust public debate: Just after this past Christmas, Dr. Brigitte Boisselier, the scientific director of Clonaid, announced the birth of what she claimed to be the first human clone. A cloud of suspicion has hung over that announcement since there's been no opportunity for independent corroboration and because Clonaid itself has the rather dubious distinction of being part of a religious sect which contends the human race was created by a group of space travelers who cloned themselves. That said, there are also some other perhaps more serious reproductive cloning efforts reportedly afoot in the labs of Italian doctor Severino Antinori and former University of Kentucky researcher Panos Zavos. All of which serves to raise a raft of questions. But first, let's just focus on the ethics of reproductive cloning itself. Your views on that?

I'm very opposed, as most people in the religious community—and, in fact, most Americans—are. When you realize the very low rate of success with all the species of animals that have been cloned to date, you begin to appreciate just how risky these efforts really are. Also, there are experts who believe that there has never been such a thing as a normal mammalian clone—even among those that have been carried through to birth and have survived. And that's because it's not only a matter of the clone having a full genetic complement. During the process of a natural union between an egg and sperm, an imprinting process is triggered by which instructions are given to the new conceptus as to which genes should be turned on and which should be turned off under certain circumstances. And we cannot replicate that process in cloning experiments.

Also, clones tend to be of a very large size in comparison to normal pregnancies, so they can be quite dangerous to the mother. That large size also seems to contribute to a low likelihood that any such pregnancy will actually survive to term. So I think it's scientifically irresponsible to be doing any human cloning at this point. Having a child be born through that process raises all kinds of moral and ethical issues. Personally, I don't think human society is ready to deal with those issues. I'm particularly concerned with the tendency cloning would have to commodify human life. It would also encourage parents to view reproduction as something that can be controlled according to design specifications of their own choosing.

So if I understand you correctly, you believe it would be scientifically irresponsible to proceed with reproductive cloning because there's so much about fundamental human biology that is not yet understood?

Yes. That's true. But even if it was understood, it couldn't be controlled. So my concerns actually have to do with both of those aspects.

OK. But with regard to understanding, wouldn't continued research on embryonic stem cells help us to gain a richer, fuller appreciation for fundamental biological processes? Isn't that the hope anyway?

Well, certainly, one of the reasons scientists want to proceed is that they believe they'll learn a great deal more about basic human biology at the early stage of life.

Another consideration is that given all the buzz these various efforts at human cloning are likely to create, what do you see as the potential implications for therapeutic cloning research programs? Are they likely to suffer collateral damage as a consequence of a furious backlash against reproductive cloning?

Yes, they almost certainly will. But I think that research would be less likely to suffer damage if we had regulatory safeguards in place to assure that therapeutic cloning cannot metamorphose into reproductive cloning.

There's a school of thought that holds that anything developed initially for therapeutic purposes can—and usually will—be put to more bastardized ends at some later point.

That's a valid sense of apprehension. So I certainly think it would be wise to put an appropriate regulatory structure in place before we proceed down the path of therapeutic cloning.

Do you feel the people in Congress and the White House currently have enough of a grasp on the distinctions between reproductive and therapeutic cloning to be able to formulate informed, balanced policy guidelines?

No. But, in any event, I think the White House is more inclined to make decisions on a political basis than a scientific basis.

What ethical distinctions would you yourself draw between reproductive cloning and therapeutic cloning?

Therapeutic cloning, of course, is never intended to result in the full development of a human being, but only to enable an early stage embryo to proceed far enough for the purposes of harvesting stem cells that can be directed to develop into a specific kind of tissue. And so the ethical issues about a child being born with any expectations of a predetermined future are not really in question. Also, there are few scientific risks. You don't have the problem of assuring that the conceptus can transit through the various stages of development to an actual birth. But some of the same ethical concerns that have been raised about reproductive cloning apply—for example, the possibility that this process will diminish our sense of the sacredness of life or accelerate the commodification of human life. Those concerns have been raised by ethicists in both the secular and religious communities in response to potential human reproductive cloning. Still, you could say the risks associated with therapeutic cloning are smaller and the benefits are potentially greater. So that would certainly tend to change the calculus.

And here's another consideration to weigh in the balance: We've already established that current US policy bars the use of public funds for much of the stem-cell research currently under way. But by leaving that research largely in private hands, aren't we ensuring that the therapeutic benefits of stem-cell research will ultimately be distributed in an inequitable fashion?

Definitely. Because private investors are going to put their money wherever they think the potential for reaping a financial reward is greatest, we may find that our current restrictions on public funding end up skewing the types of therapeutics that are ultimately developed. Also, because the tendency in the private sector will be to patent most of those therapies, providers will be free to drive up prices—which will effectively reduce the availability of any therapeutic applications.

Specifically with regard to the potential for skewing the research itself, it's long been held that pharmaceutical companies tend to drag their feet when it comes to the development of vaccines, since curing a disease almost never proves to be as profitable as treating a disease.

Right. And the other problem is that because so much of the current stem-cell research is being done in the private sector, there's likely to be a strong sense of proprietary control that may impede access to future data and stem-cell lines—which may have the effect of slowing progress across the board. In this country, we don't have a strong research exemption codified in law that would protect researcher access to the material so long as it's not used for commercial development purposes.

So the net effect, if I understand you correctly, is that we may end up retarding research as a whole, and that certain promising therapies may never be developed simply because they don't appear likely to yield obscene profits.

That's right. Also, I think you shouldn't underestimate the implications of not sharing the results of private research with others throughout the research community.

Are you optimistic that policymakers can be educated sufficiently well to allow for enlightened thinking in this area?

I think they can be educated, but I think most decisions in this area are made on political rather than scientific grounds. And that, of course, is bound to have major repercussions.

I'm inclined to think of that, actually, as little more than just the typical populist pandering for political as usual, in other words. That said, what role do you feel ordinary citizens ought to start playing in the debate?

The AAAS has strongly advocated educating people and finding ways to involve them in meaningful public discussions. We have a democratic and representative form of government. And we are making very important decisions currently on some very substantial technical and scientific matters. Unless people can become more scientifically literate and start participating on that basis in public debates, it's going to weaken our whole representative, democratic order.

About the Interviewer

Mark Compton monitors trends in information technology and biotechnology from a comfortable perch midway between the Silicon Valley and Oregon's Silicon Forest.

Geneforum Interview with Insoo Hyun: Ethical thinking guides new South Korean World Stem Cell Hub

As the embryonic stem cell debate rages in the United States, the South Korean World Stem Cell Hub has deployed a more practical and less acrimonious approach for guiding advancements in this area of research. In an interview conducted by Geneforum, Korean-born Insoo Hyun, Ph.D., a bioethicist at Case Western Reserve University and co-chair of the South Korean World Stem Cell Hub Ethics Working Group, describes how a cooperative and open dialogue between the Hub and the South Korean government has allowed him, at the onset, to train researchers to think ethically about embryonic stem cell research. "If you don't think about the ethical issues, there will be a time when it will hinder your basic science research, like what's happening in the U.S," says Hyun in the interview. "You really need to be involved in the ethical discussion from the start." The interview with Marie Godfrey, writer of Geneforum's blog, Genetizen, tells about the innovative ways ethics, preclinical/in vitro science, and clinical studies are being integrated in South Korea. UPDATE: There are a number of news stories today about the announcement of the World Stem Cell Hub in South Korea. See articles in the San Francisco Chronicle and the New York Times (subscription required).

Letter from Insoo Hyun and Kyu Won Jung, World Stem Cell Hub Ethicists

The following letter just appeared in the American Journal of Bioethics:

Letter to the Editor Concerning Oocyte and Stem Cell Procurement for Stem Cell Researchby Insoo Hyun, Kyu Won Jung
2005. The American Journal of Bioethics 5(6):Wxx

To the Editor,

In our article, Oocyte and Somatic Cell Procurement for Stem Cell Research: The South Korean Experience, we outlined and defended the informed consent procedures that we reported that Dr. Jung designed for the Hwang team's 2005 patient-specific stem cell study. In our article, we claimed that the Hwang team followed these rigorous informed consent procedures to procure eggs and somatic cells for their 2005 stem cell research.

However, on December 16, 2005, we began to doubt whether the Hwang team had actually used any of these eggs and somatic cells to generate data for their 2005 Science study. Our doubts were raised by some of Dr. Hwang's remarks during his press conference that same day and also by the two to three month timeline now widely acknowledged by scientists to be necessary to culture new stem cell lines.

Our first concern was that the timeline for the volunteers egg and somatic cell donations did not match the timeline necessary for the Hwang team to produce data for their March 15 article submission to Science. The process we described was not in place prior to January 23, 2005.

Furthermore, Dr. Hwang publicly declared that several patient-specific stem cell lines were contaminated on January 9, 2005, which would suggest that the team performed some of their cloning research well before to the activation of Jung's informed consent procedures. We reported our concerns immediately to a member of the Hanyang Hospital IRB and the leadership of the International Society for Stem Cell Research (ISSCR) and its bioethics committee.

On December 23, 2005, the SNU investigative body announced not only that the Hwang team had fabricated their data, but that they had also used far more eggs than they had initially reported to Science. These extra eggs most certainly were not procured through our described informed consent procedures. Indeed, we wonder whether any of the eggs and somatic cells donated through our informed consent procedures were ever used for research. If not, then Hwang and colleagues may have allowed egg donors to expose themselves to risk needlessly. So, in addition to the problems of the Hwang team's scientific integrity, serious ethical charges of informed consent must now be explored.

We are extremely disappointed by the evidence of the Hwang team's scientific and ethical misconduct. However, we remain steadfast in our belief that the informed consent procedures we describe in our article are ethically rigorous and that they provide a useful starting point for developing tough guidelines for tissue procurement for stem cell research. Unfortunately, we were lead to believe that the Hwang team had actually used these procedures to produce the patient-specific stem cell lines they reported to Science.

Insoo Hyun and Kyu Won Jung

Geneforum's interview with Dr. Hyun appeared some time ago in this blog. We have a second interview, which should be posted soon.

The full article on oocyte donation is the following:

Oocyte and Somatic Cell Procurement for Stem Cell Research:by Kyu Won Jung, Insoo Hyun
2005. The American Journal of Bioethics 5(6):W17

The article has free access.

Marie Godfrey, PhD

Wish and WSCH--the difference is a human being

When the World Stem Cell Hub (WSCH) in Seoul, Korea announced that it was accepting applications from people interested in participating in stem cell research on spinal cord injuries and Parkinsons, the website was flooded with applications. I want to introduce you today to someone who is among those who applied to WSCH.

Steven Edwards describes the emotional aspects of his application in Stem-cell Hopes Hit Home, published online in Wired Magazine, at,1286,69470,00.html. "I knew my odds were slim. When the call for subjects came out, the website for the World Stem Cell Hub crashed under the traffic load. If I volunteered, I would be one among thousands" he tells us.

He views the implications of a embryo made with his DNA and wonders, "What would the embryo that was used to cure me be like, if it were instead allowed to develop?" This is a question much more personal than asking whether an embryo in a test tube is human. Would he be committing a form of suicide or just using part of his own tissue to create cells that might repair his paralyzed body?

What would you think, if WSCH could fulfill wishes? Please check out Steven's article.

Marie Godfrey, PhD

House passes stem cell research bill

On January 11, the House of Representatives passed the Stem Cell Research Enhancement Act of 2007 (H.R. 3) by a vote of 253 - 174. This bill requires the Secretary of Health and Human Services to conduct and support research that utilizes human embryonic stem cells, regardless of the date on which the stem cells were derived from a human embryo. It also places limits on such research based on ethical requirements.

Looks like the Democrats are trying to get things moving again. You may remember that the House passed a number of such bills last year, but none of them made it through the Senate. I'll keep following the progress. You can always make your own opinion known -- whether you support stem cell research in general, or wish to place limitations -- by writing or calling your representatives in Congress.

Click here to learn more about this legislation, and type "H.R. 3" in the bill number search box.

Marie Godfrey, PhD

Interpreting stem-cell research

In general terms, a stem cell is any cell that can multiply indefinitely and has the capacity to differentiate into more than one cell type. A stem-cell line is a group of stem cells in laboratory conditions (i.e., in vitro), continually producing new cells of the same type. Stem cells can be derived from embryos, from adult cells, from umbilical cords that are discarded after babies are born, and from human placentas. Under special laboratory conditions, stem cells can be encouraged to produce a variety of human cell types, including nerve cells, liver cells, and heart cells.

To more accurately interpret media references to stem-cell research ask the following questions:

What animal is involved? Research conducted with mice often provides insight into human systems and the research has fewer moral and regulatory issues attached. Because of current limitations in the U.S., federally-funded studies on embryonic stem cells can only be conducted with non-human animals or existing stem-cell lines. There are no limitations on privately-funded studies other than the restriction that cloning cannot be used as a source of stem cells. Research is also being conducted with tissues cultured from humans or other organisms.

Where is the work being done? Much of the current human embryonic stem-cell research is being conducted outside of the U.S. Inside the U.S., work on non-adult stem cells is limited to the few institutions who have, or can obtain, existing embryonic stem-cell lines. There are currently no U.S. limitations on non-embryonic stem-cell research, other than those already in place for any human clinical study.

What was the source of the cells?

Non-embryonic, or adult, stem cells are relatively undifferentiated cells removed from an adult and allowed to multiply in vitro. Bone marrow cells, grown in vitro before being injected into a recipient, are one type of stem cell. Non-embryonic stem cells have been tested in the treatment of cancer, Crohn's disease, and multiple sclerosis.

Embryonic stem cells are cells harvested from a special part of a late blastocyst --a layered ball of cells resulting from multiplication of a fertilized egg. Under special conditions, embryonic stem cells can develop in vitro into any tissue of the body. Muscle, nerve, and heart (cardiac) tissues have been grown this way. While the entire blastocyst, under proper conditions, can develop into a human being, embryonic stem cells cannot.

Umbilical cord blood contains neonatal stem cells. These cells are capable of differentiating into various cell types; such as hematopoietic cells (blood and immune system-forming cells), mesenchymal cells (muscle, cartilage, bone and fat cells), and neural cells (brain and central nervous system cells). These properties of cord blood stem cells are similar to those shown by embryonic stem cells. However, unlike embryonic stem cells, umbilical cord blood stem cells are abundant, easily collected and are non-controversial.

Who was the source of the genetic material? Non-embryonic stem cells can come from the same person who later receives the injected stem cells (autologous transplant), a closely related person (allogenic transplant), or an immunologically matched but unrelated person (Matched Unrelated Donor or MUD transplant). Syngenic bone marrow transplants are performed from one identical twin to the other. Prior to receiving the newly grown cells, the recipient is treated to decrease their own immune system's cells to as few as possible. After receiving transplanted cells, the recipient may be given drugs to prevent rejection of the new cells and possible graft-versus-host disease. Once begun, anti-rejection drugs must be continued throughout the recipients life. Embryonic stem cells can be harvested from an embryo that has developed to the blastocyst stage (14 days and about 150 cells) from a naturally-fertilized egg, an artificially-fertilized egg, or an egg whose genetic material was replaced by genetic material from another cell. Genetic material from the intended stem-cell recipient can be used to replace genetic material of a fertilized egg.

Stem cells can also be identified by the terms pluripotent, totipotent, and multipotent:

Totipotent stem cells form when a fertilized egg first divides. Totipotent stem cells can develop into a complete individual.

Pluripotent stem cells are also called embryonic stem cells. A few days after a fertilized egg divides, the totipotent stem cells form a blastocyst, or a ball of cells. The inner layer of this blastocyst contains pluripotent stem cells, which are capable of developing into any tissue in the body. Pluripotent stem cells cannot, however, become a complete individual.

Multipotent stem cells are sometimes called somatic or adult stem cells. These stem cells are found in mature tissue and are maintained by the body to replace worn out cells in tissues and organs. Stem cells from bone marrow, called hematopoietic stem cells, form the various kinds of blood cells. Neural stem cells form the brain and central nervous system. Mesenchymal stem cells form fat, bone, muscle and cartilage.

Marie Godfrey, PhD

Is embryonic stem cell research necessary?

If--according to the last entry I posted--adult stem cells can treat 65 different diseases/conditions and embryonic stem cells 0, why is research being conducted with embryonic stem cells and why is there a debate about federal funding of same? A number of possible reasons have been proposed:

  • Media hype, hope, and promises
  • Terminology is confusing, so few know what is going on
  • The limitations of adult stem cells
  • The National Academies of Science (and NIH) said so

Media hype, hope, and promises

The first embryonic stem cell was created in 1998. Seven years is plenty of time for media hype, but not enough to cure the many diseases/conditions promised daily in newspapers and television. Over the Labor Day weekend, Robert Winston, a leading fertility expert in the UK where embryonic stem cell research is legal and funded stated that he believes that the benefits of stem cells have been overhyped. His announcement has received almost as many Google alerts as Senator Frist's change of mind, indicating that sensational news whether good or bad tends to get transmitted around the world very quickly.

Testimony by famous people such as Christopher Reeves and Nancy Reagan help keep the widest possible options active.

Terminology is confusing, so few know what is going on

Perhaps embryonic stem cell research is still in the news because people are so confused about the language used that the most controversial keeps hogging the spotlight. The phrase stem cell alerts readers to interesting and perhaps controversial news, as does the word cloning. Even embryonic is not specific enough. Reiterating some of the confusion may show how complex the terminology problem is.

An adult cell is one that has fully differentiated into its functional state in the body for example, the rods and cones of the eye are adult cells even if they are found in a child or a fetus. An adult stem cell is, presumably, a cell in a cell in a human body that produce a copy of itself under some conditions and a more differentiated cell in other conditions these are the hematopoietic (blood-forming) and mesenchymal (connective-tissue forming) cells of the bone marrow and other clusters of cells elsewhere in the body.

Stem cells taken from the umbilical cord of a newborn human infant or from the fluid around a developing fetus or from other amniotic tissues (including a portion of the placenta) are also called adult stem cells. These are sometimes called stem cells with embryonic potential or embryonic-like stem cells, since they are believed to be capable of developing into more tissue types than adult stem cells from a particular adult tissue.

Generally, the name embryonic stem cell is reserved for cells derived from the inner cell mass of the blastocyst stage of early embryonic development. By the way, the outer layer of the blastocyst is necessary for implantation and for development of the placenta and umbilical cord.

A stem cell derived by transfer of adult DNA into an unfertilized egg (the Korean stem cell lines) or into an embryonic stem cell (the Harvard stem cell) is also an embryonic stem cell even though it may not have been taken from an embryo and certainly could not have developed into a human being.

The earlier blog entry, Interpreting stem cell research, provides a clear way to analyze reports in the media and--perhaps--to deal with confusing terminology

The limitations of adult stem cells

Some argue about it, but there is strong support of the conclusion that adult stem cells are not as versatile as embryonic stem cells. One limitation is that most of the diseases/conditions treated with adult stem cells (bone marrow source) are related to rescuing the body's ability to make blood cells and fight infections. Many of those who argue against embryonic stem cell research include umbilical cord blood cells in the category of adult stem cells. We are learning, as expected, that the manipulation of stem cells into tissues in the laboratory differs from the same differentiation in the body and that the milieu in which the cells live matters greatly. Perhaps adult stem cells are not as limited as they seem and we only need to figure out what's needed to make them more versatile.

At the same time, adult stem cell transplants have been around for 40 years and have yet to cure Parkinsons, Alzheimers, muscular dystrophy, spinal cord paralysis.

The National Academies of Science (and NIH) said so

In 2002 the National Academies report Stem Cells and the Future of Regenerative Medicine called for human stem cell and human embryonic stem cell research to move forward. The report argued for federal funding of research deriving and using embryonic stem cells from a variety of sources, including those from nuclear transfer. The reasons for federal funding were that progress in the field is less likely to be hindered and there's greater opportunity for regulatory oversight and scrutiny of the research. Bush's later Presidential Directive limited the stem cell lines to those in existence in August, 2001. The National Research Council and the Institute of Medicine recently released their Guidelines for Human Embryonic Stem Cell Research, which are intended to provide some consistency in how embryonic stem cell research is conducted.

Marie Godfrey, PhD

My opinion on stem cell research

Although I am extremely reluctant to do so, I've been encouraged by some others in Geneforum to share my personal opinion of stem cell research. I suspect they will be surprised. In the stem cell poll that appears in the left column of the home page for Geneforum, my vote is among those in the 3rd category--my opinion on federal funding of stem cell research is based mostly on economic grounds. Even before the two hurricanes that hit the Gulf Coast, I have been among those who feel that the U.S. federal government is spending our money inappropriately. There are so many other things we need to spend our money on--things that support life today. The opening of the World Stem Cell Hub in Korea has been of special interest to me because it means that another country, who deserves the economic boost, is focusing on research that is likely to provide amazing and unimagined applications in the future. We really need to operate as an international community, not just as one country. I agree with Insoo (see my interview with Insoo Hyun, a bioethicist) that the focuses of embryonic and adult stem cell research are different and that embryonic stem cell therapies for human diseases with a genetic component (for example, Type I diabetes) are a long way off in the future. There's no strong scientific reason to discard one type of research in favor of the other. I really don't know what I think about "true" embryonic stem cell research, where a human embryo, created by fertilization of an egg with a sperm, is destroyed. For somatic cell nuclear transfer (SCNT)--at least the type performed by Hwang in Korea--I tend to think the way Hwang does (according to Insoo). It's a very special form of tissue culture, providing an opportunity for advancing our knowledge of disease therapy and our understanding of cells in a way simply not possible with adult stem cells. As I read about the long-term effects of bone marrow transplant--especially for young children--I am excited to think that there may be a way to avoid graft-versus-host disease that is all too common when cells are transferred between two different people. Wouldn't it be great to have cells immunologically identical to the recipient? If SCNT is the only way to get that, then I support the research. I have wondered, as a scientist and geneticist, what if blastocysts created in SCNT are not capable of developing into human beings? Human fertilization and implantation are such complex processes--often failing even in the best of conditions. Why have we automatically believed that the product of joining a somatic cell and an enucleated egg cell is a viable human embryo? Just because animals can be cloned, it doesn't mean that's what's being done in SCNT. And no, I definitely do not support human cloning! Please note, these are my opinions only, and may not reflect those of other members of Geneforum or its board. Your opinions are also welcome; use the comment mode in this blog to let others know what you think--and why. Marie Godfrey, PhD

Regulatory hurdles for stem cells

One of the big surprises to me from the stem cell meeting in San Francisco over the weekend was the academic's astonishment at how much work is involved in getting a treatment approved by the Food and Drug Administration (FDA). If stem cell treatments are to be patented and sold like prescription drugs which is a likely commercial goal then a very long process is involved and the steps are many. The steps are also highly regulated by authorities, including the U.S. FDA, the European Agency for the Evaluation of Medicinal Products (EMEA), and the Korean Food and Drug Administration (KFDA).

Human clinical studies can begin in another country or in a U.S. state as long as no international or interstate commerce is involved an unlikely situation given the limited sources of stem cells. To conduct studies that may eventually be used to support a marketing application, an Investigational New Drug Application (IND) is necessary and this requires extensive, highly regimented animal (preclinical) studies. Essentially, the group planning to introduce the stem cells into humans has to 1) characterize the material to be used, 2) demonstrate that the material is unlikely to cause safety problems, and 3) provide a plan for Phase I clinical studies.

A natural question to be asked here is, why hasn't this been necessary with bone marrow transplants? The issue is profit. A group, such as a particular hospital, can perform medical procedures considered beneficial for patients without all the FDA regulatory process as long as the procedure is not patented and sold for profit. That the facility performing the procedure is likely to make a profit because patients will go there rather than elsewhere is a different issue. Thus, we have bypass surgery for heart conditions as an accepted medical procedure, but balloons inserted into blood vessels to increase blood flow were patented and met FDA regulations as medical devices.

So, as we consider the future of stem cell research we also have to include the American free-market system and the need for companies to make a profit. What I don't know and perhaps a reader can tell us what regulations companies that offer fetal stem cell treatments or cord blood cell treatments have to follow.

Marie Godfrey, PhD

Research results vs. breakthroughs the Scientific Method vs. media hype

I live in Utah the home of cold fusion (which was greatly hyped before its bubble burst) and, as a scientist, I'm always eager to see confirmation of new breakthroughs before I fully believe. Meanwhile, media hype is eager to report the first or the best whatever. The addition of money and politics to the picture has enhanced the conflict.

The latest accusations in the Hwang stem cell controversy are not surprising. Hwang's work has not yet been duplicated by others. One of the key steps of the Scientific Method is confirmation of results by outside sources. While Hwang could be accused of going after the glory before the confirmation, I can't help but wonder what Shatten and the others in the group were doing at the time. Could they have attached their names to a paper without agreeing with the information in the publication?

Science contains "refereed research reports, submitted by their authors for free, with the sole objective of making the research findings available as broadly as possible once they have met Science's rigorous standards of peer review" as well as articles by salaried staff writers and commissioned articles written for a fee. The Hwang article, published in Science 17 June 2005 308:1709 (online in Science Express on 19 May 2005) presumably was peer-reviewed. Could the peer reviewer(s) and the editors (copyeditors, proofreaders, etc.) not note that two figures were identical when they should not have been?

Perhaps the greatest message in the Hwang conflict is that we all have to be critical of information released by scientists to the public. I have worked as a scientist writing peer-reviewed publications, a medical writer for pharmaceutical companies, and now a blogger. Each of these areas is and should be subject to public scrutiny. You, as a reader of this blog, can hold me accountable by challenging anything I write and I really appreciate those who take the time to comment on blog entries, whether the comments are positive or negative. The only comments I do not publish are the obvious spam messages that slip through.

So, view news reports and even scientific articles critically. You do not have to understand the science to be critical of its reporting. In fact, for another publication I write for, we prefer critics who know nothing about the subject in question. We ask them to read an article and tell us whether it is believable and coherent. We can all do the same.

Marie Godfrey, PhD

Stem cells from primates

I just put my new Oregon license plates on my car and am proud to identify myself as an oregoniutahn (probably sounds like some commercial you've seen lately). Today's Oregonian included more on its front page about Shoukhrat Mitalipov's ability to cconvert monkey skin cells into heart, nerve and other adult cells. Before this, no one had been able to get the right combination of techniques and chemicals to complete the process. The journal Nature published a study detailing the breakthrough. According to the Oregonian, "Mitalipov and his colleagues had cloned cells scraped from a monkey's skin, transforming them into embryonic stem cells by incubating their DNA inside an egg cell. Researchers "turned the resulting line of stem cells into heart cells, nerve cells and other adult cells." "A Russian native, Mitalipov has worked at the Hillsboro lab since 1998 with retired scientist Don Wolf and others. Despite scientists and politicians promising that sick people could be treated with cloned stem cells, many researchers thought primates' complex biology would make that technically impossible." "Basically, the Oregon scientists figured out a better way to run an experiment that had been done many times without success. Cloning monkey stem cells involves harvesting an egg, emptying material from the egg's nucleus, then inserting DNA from an adult cell. But the tools and methods previously used damaged the cells, so they rarely grew into early stage embryos and never yielded stem cell lines." "Genetic tests proved the resulting cells genetically identical to the adult DNA donor, not the female egg donor, right down to having Semos's (the donor monkey) male sex chromosome. At least one major problem remains: "The technique is not terribly efficient. The Oregon crew used 304 eggs to make two stem cell lines." Check out oregonian/index.ssf?/base/news/1195102503309700.xml&coll=7&thispage=1 for more details. Marie Godfrey, PhD

The end of stem cell research? Hardly

My thanks today to Arthur Caplan, PhD, for his comments on stem cell research--in direct contrast to mine yesterday about stem cell research fizzling. His article--whose title I stole for this blog entry--can be accessed at

In addition to discussing the demise of Hwang and his research, Caplan comments on a fact well-known among scientists but not always effectively transmitted to the public:

In fact it has proven very hard to clone many animals including most monkeys and primates. While human embryonic cloning will happen it may not happen for years.

People wanted to believe--including those who flooded the World Stem Cell Hub website with applications to participate in stem cell studies. Caplan suggests Hwang got away with the hoax--admittedly it was for only a short time--because people are so convinced that stem cells and the "cloning" needed to create them are possible.

Thanks, Arthur for your thoughtful contribution to the latest news.

Marie Godfrey, PhD

What is a cell?

Ever so often, we need to repeat the basic questions before we can go on to the more difficult ones. So, what's a cell?

The cell is the smallest complete unit of a living organism. Bacteria are one-cell organisms; humans have many millions of cells. For multicellular organisms, the cell (zygote) created by the fertilization of a egg by a sperm can multiply, differentiate into many different tissue types (e.g., muscle, nervous, cardiac), form different organ systems (e.g., cardiovascular, skin, digestive tract), and become an entire human being. In humans, as with all mammals, development into an independent living organism is only possible if the zygote implants itself in a female's uterus within a limited number of cell disivions after fertilization.

During differentiation, most cells follow a one-way path towards one of the many different tissue types needed by the body. Although nearly all cells of a human being contain the same genetic information (genotype), cells of one tissue type (e.g., muscle) are different in appearance and function (phenotype) from all cells of other tissue types (e.g., nerve and skin).

Because the body often needs different numbers of certain cells, the body's remarkably efficient construction system maintains a supply of cells that have not completed their differentiation. In particular, stem cells in bone marrow can produce lymphocytes, leukocytes, and other blood cells. Except for these "undifferentiated" cells, one tissue type cannot produce another tissue type; e.g., muscle cells cannot produce nerve cells.

Two cell types of the human body are "special". The sex cells -- oocytes and spermatocytes -- produce specialized reproductive cells -- eggs (ova) and sperm -- which have only half the genetic material of other body cells. Human females produce all their egg cells before birth; males produce their sperm cells over many years. An egg or sperm must combine with its matching type (forming a zygote) before it can multiply. The other special type of cell is red blood cells (erythrocytes), which have differentiated so far they no longer contain any genetic material and can no longer produce new cells.

Marie Godfrey, PhD