The Genetizen

Genetizen

Advances in genetics and biotechnology are impacting society in provocative ways. The Genetizen is written by a select group of scientists, bioethicists, and healthcare professionals who provide you with expert analysis and commentary on many important issues.

Disclaimer: Opinions expressed in blog postings may or may not reflect the opinions of Geneforum. In addition, the content provided here is purely informational and not a substitute for advice from your personal physician.



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

Genetizen's blog

Genetic prediction of type 2 diabetes

An online journal called PLOS publishes peer-reviewed articles available to the public. A recent article, Genetic Prediction of Future Type 2 Diabetes, is particularly interesting to me in two ways:

1. It is a fully documented scientific study, with sufficient detail provided for knowledgeable readers.

2. It provides a "patient summary" at the end for those who are less well-informed about the subject but would like a clean--non-media-hype--summary of the information

Here's the patient summary:

Patient Summary

Background

Type 2 diabetes, also known as adult onset or non-insulin-dependent diabetes, is increasing in frequency around the world. Many different factors work together to make someone more likely to develop diabetes, including factors in their environment—for example, the food they eat—and in their family background—the genes they inherited from their parents. Many studies have been done looking at which genes are associated with diabetes, but few have tried to see whether it is possible to predict who will get diabetes in future from looking at a person's genes before any symptoms develop.

Why Was This Study Done?

These authors wanted to look at changes in five genes previously shown to be associated with diabetes in a group of people who were to be followed prospectively—that is, from before they developed diabetes—and see if it was possible to predict who would get diabetes.

What Did the Researchers Do and Find?

They studied 2,293 people in Finland who were family members or spouses of people with type 2 diabetes, but who themselves did not have diabetes. They followed these people for up to 12 years, starting in 1990. In total, 132 of these individuals (6%) developed diabetes during this time. They found that changes in two of the genes, PPARG (which is involved in how the body regulates fat tissue) and CAPN10 (which is involved in modifying certain proteins), were associated with people having a higher chance of getting type 2 diabetes. This chance was increased substantially when the participants already had slightly raised blood glucose, and a high body mass index.

What Do These Findings Mean?

In some people, it does seem possible to use certain genes to predict whether a person will develop type 2 diabetes. However, environmental factors are also very important, and any risk is much increased in people who are already overweight.

Where Can I Get More Information Online?

MedlinePlus has many links to pages of information on diabetes:

http://www.nlm.nih.gov/medlineplus/ency/article/001214.htm

The Finnish Diabetes Association has information on diabetes in general and more specifically for Finland:

http://www.diabetes.fi/english/

The full article is available online at http://medicine.plosjournals.org/perlserv/?request=get-document&doi=10%2E1371%2Fjournal%2Epmed%2E0020345. The article was published in Volume 2, Issue 12, December 2005.

Marie Godfrey, PhD

Genetizen's blog

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

Genetizen's blog

Can genetic testing predict the future?

Many years ago, I participated in an American Cancer Society annual meeting during which a statistician from the University of Utah explained the work he was doing with genetic inheritance of breast cancer. He described women having "preventive" mastectomies to avoid suffering through breast cancer; these women had learned they had a 50% chance of developing breast cancer--based on their family history.

I was horrified at the time and confirmed his statement by telephone. Whether these women would have actually had cancer and had their lives threatened, they'll never know. But, they do now know the horrible effects of mastectomy. Today, we know about the BRCA1 and BRCA2 genes and the HER gene--all of which all related to the inheritance of a greater probability of breast cancer of specific types. So the choices of preventive treatment may be even more common.

In light of yesterday's blog--reporting many, many genes involved in long QT syndrome (a dangerous heart condition), we can suspect that many more genes are yet undiscovered that are connected with breast cancer.

Prenatal genetic testing was available when our children were conceived. We could have considered a third child, and had genetic testing to be sure the child did not have any visible genetic problems (I was over 35). But, I could not deal with the potential choice of whether or not to give birth to a child with obvious potential problems. We chose instead to stop with two. The fact that genetic testing existed and could be used was not the key factor in our choice--other issues were more important.  

So, in response to a question raised by a reader--what will my future be?--genetic tests provide important information, but what you do with that information determines your future not the test results.

Marie Godfrey, PhD

Genetizen's blog

Test for serious heart condition tested in Italy

A condition known as long QT syndrome (LQTS) can now be detected quite effectively with a new genetic test. Genetic testing on 430 LQTS patients and 1,115 of their family members identified 235 different mutations -- including 138 new ones -- in 310 (72 percent) of the 430 patients. The Italian team confirmed its findings by testing for the mutations in a separate group of 75 LQTS patients.

While the news is very interesting, and shows that many different inherited factors can result in long QT syndrome, the article reporting this information doesn't deal much with how this information benefits those identified with the mutation. Are they likely to die from long QT or can some specific treatment help them? About the only thing mentioned is that these people may be more sensitive than others to drugs, including prescription drugs, that lengthen the QT interval (a measure of reploarization of the heart muscle).  Presumably knowing about their long QT status could lead to their avoiding drugs with this action.

Marie Godfrey, PhD

Genetizen's blog

Preimplantation genetic diagnosis

According to the Centers for Disease Control and Prevention, more than 45,000 babies are born each year with the aid of assisted reproductive technologies like in vitro fertilization. (IVF). Preimplantation genetic diagnosis has been used for more than a decade to screen embryos for hereditary diseases such as Down syndrome and other abnormalities. To do this, one cell from an eight-cell embryo is extracted and examined for chromosomal defects.

Theoretically, each of the eight cells should be identical. However, in up to 50% of embryos created by IVF, a type of mosaicism occurs in which some cells of the embryo have a different genetic complement from the other cells. Embryos that become mosaic after their cells divide twice typically stop progressing by the time they have accumulated eight cells. Too many of their cells have chromosomes that don't match and these mixed messages lead the embryo to stop developing, according to Larissa Kovalinskaia, an IVF researcher at the University of Florida. Thus, it is possible that the one cell removed for testing may indicate a normal embryo, while the embryo has some mosaicism and may not develop further or may develop a fetus with abnormalities.

UF researchers estimate less than 3 percent of healthy embryos are discarded as abnormal and only 1.5 percent are implanted with undetected genetic defects because of mosaicism.

But the small margin of error shouldn't stop couples from having preimplantation genetic diagnosis, said Jamie Grifo, a professor of obstetrics and gynecology at New York University. The testing can work miracles for women prone to miscarriages or who carry genetic diseases, he said. Screening embryos for genetic diseases offers couples the best chance for a healthy child.

(Much of the information presented here comes directly from a EurekAlert! article published today.)

Marie Godfrey, PhD
Genetizen's blog

Pharmacogenetics

Pharmacogenetics--the branch of genetics concerned with differences in ability to react to or metabolize prescription drugs--is optimistic that genetic testing will change medicine from a reactive paradigm to a proactive, preventive paradigm.

The plan is to identify people who, for example, are "poor metabolizers". These people have a hard time breaking down specific kinds of drugs and are thus often more sensitive to them. For some, an anesthetic may be deadly. Being tested and using the knowledge acquired to help you understnd how you react to drugs may help you avoid potential problems.

Pharmacogenomics can also help tell someone that they may be unlikely to be affected by a drug. For example, statins--which work to lower LDL-cholesterol--don't work on some people. It is possible that they are not genetically suspectible to the action of the statin drug. The side-effect risks in taking a statin would likely outweigh the potential benefits for these patients, and they are probably better off using another anti-cholesterol treatment.

Marie Godfrey, PhD

Genetizen's blog

Umbilical cord cells successful in Congress

On December 17, the House of Representatives voted to pass HR 2520--the Stem Cell Therapeutic and Research Act--written by Chris Smith (R-NJ). The non-controversial legislation had passed the House in May by a vote of 431 to 1 and was slightly altered before passage by the Senate Friday night. The bill will now be signed into law by President Bush.

Umbilical cords are a rich, non-controversial source of stem cells. Currently hospitals throw millions of them away each year because the infrastructure required to properly collect and store them is not available. When signed into law by President Bush, the bill will increase the number of cord blood units and cord blood stem cells available for treating patients and expanding research will greatly increase.

The national program would promote stem cell research by requiring participating cord blood banks to donate units that are not suitable for transplant to researchers who are working on new applications for cord blood stem cells. In addition, for the first time, a nationwide stem cell transplantation system would be established.

Says, Smith, "One of the best kept secrets in America today is that umbilical cord blood stem cells and adult stem cells are curing people of a myriad of terrible conditions and diseases." Thousands have been successfully treated with cord blood stem cells for more than 67 diseases including Leukemia and Sickle Cell Anemia—hmmm, has the magic number (65) increased by two lately?

Anyway, it's nice to report some success in stem cell policy.

Marie Godfrey, PhD

Genetizen's blog

Shall we let the dust settle?

My news every day presents new discoveries and accusations of problems in embryonic stem cell research. Reports of contamination of some of Hwang's stem cell lines by fungi are only the latest. Having commented on these problems several times, I think it's now time for me to let the dust settle on the stem cell controversies for a while and hope that the solid research both adult and embryonic stem cell research continues.

For a while, this blog will focus on genetic testing. As solid information emerges about stem cell research, I'll post it for you.  I was about to suggest readers interested in stem cell progress check out the site I've referenced earlier (http://www.newdrugs.com/stemcells), but on checking it out today, I see that she is also taking a break. Perhaps disappointment is contagious. Stephen Meyer, however, is still continuing his work on updating stem cell news. Check out his group at StemCellInformation@yahoogroups.com.

Please stick with Geneforum and learn about the incredible and odd uses to which genetic testing is being applied. I know you'll find it enlightening.

Marie Godfrey, PhD

Genetizen's blog

South Korea and medical tourism

South Korea's hopes of promoting "medical tourism" based on the early success of the announcements of the World Stem Cell Hub and Hwang's 11 stem cell lines have certainly dimmed in the past couple of weeks. While reports vary, it is quite certain that Hwan's results will be thoroughly scruntinized--as anybody's results should be.

Why was a group in South Korea hoping to draw patients there for stem cell treatments? Of course, one of the immediate answers is money. Medical tourism, as it is called, is a move by a number of countries to lure patients in for treatments that are prohibited elsewhere or cost less in the interested country.

While Mexican clinics did much the same for cancer patients, tourism was not usually part of the promise.  Now, several countries--primarily in Asia--are offering medical treatments at lower costs and combining these with the lure of visiting a new land. Sort of a combined boost for both the body and the spirit.

Having just returned from a tourist trip, I can't imagine combining medical treatment and touring the sights--especially not when it comes to stem cell treatments. Bone marrow and umbilical cord stem treatments require a lot of preparation and follow-up. I wonder how many people would want to be away from home, even visiting the sights, for such a long time? I can speak with such disdain because I don't currently need a stem cell transplant. What about those who do?

Marie Godfrey, PhD

Genetizen's blog

Commercialization of genetic testing

Have your genes ever been tested? If you were born in the U.S., the chances are quite high that you had such a test within days of your birth. One of the first genetic tests used on newborns is for PKU--phenylkeotneuria--a condition in which your body cannot digest particular proteins. If these proteins are removed from your diet, the brain damage that might otherwise occur doesn't happen.

From that relatively simple beginning, we now have genetic tests available over the Internet: just send in a sample of the inside of someone's cheek and check for paternity, Native American ancestry, whatever.

The first post in this genetic testing series presented the story of one woman who was tested for the BRCA gene, a gene that can interact with other factors to promote some breast cancers. She shared her emotions in dealing with the results of the tests (see the blog entry Do you want to know your future?).

I'll be using my favorite Google Alerts and other sources of information to follow news on genetic testing, including its commercialization. If you're interested, bookmark this site and check in often. Your questions and comments, as always, are very welcome.

Marie Godfrey, PhD

Genetizen's blog

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

Genetizen's blog

People hoping for stem cell progress disappointed lately

I've been away from a computer for nearly three weeks--with two limited chances to check e-mail--and am trying to catch up on the news in stem cell research. Along with many others interested in the field, I am disappointed to see that many of the alerts relate to questions about Hwang's research in Korea and not to progress in treating diseases. I guess this is really not surprising, considering the media hype generated from announcements in the past 6 months or so. I'll scan everything hoping to find some reports of progress and bring them to you.

Marie Godfrey, PhD

Genetizen's blog

Don´t buy genetic tests as Christmas presents

While you´re considering what to buy for your family, ignore genetic tests. Much of the hype surrounding the value of these tests is overplayed and you can´t even be sure the tests are conducted accurately. More information to come as I resume the blog after travels in Europe.

Marie Godfrey, PhD

Genetizen's blog

It's all politics

An article in today's Seattle Times adds some interesting touches to the "scandal" of egg donors in Korea (http://seattletimes.nwsource.com/html/nationworld/2002634970_stemcell20.html). It seems that Shatten, who says he left Hwang's group because of ethical irregularities over egg donations, has been involved in a similar situation before--in California. Also, as several newspapers have noted, the possibility that female scientist(s) in Hwang's lab may have been donors for the research that originally resulted in the production of the first embryonic stem cells from humans arose well over a year ago and was presented in an article in Nature. At the time, the statement from one woman was recinded with the explanation that her English is faulty and her statement inaccurate. So, the news is not news, after all.

As my younger daughter would say, "Whatever!"

The point is that embryonic stem cell research is becoming a hot item and "we"--whoever we are--have little control over the details of what is happening. President Bush's edict, intended to halt research that "involves the killing of embryos" may have done just the opposite by forcing researchers to look elsewhere for money. Reports I have read suggest that over 150 stem cell lines have been developed outside and in the US and these cell lines are being offered to the UK stem cell bank as well as locations here in the US.

Research is going on, and the impetus is money and power--the usual components of politics. We can still participate in forming public policy, but we'll probably have to look at ways to go about it other than introducing a spate of bills into Congress and then letting them die.

Marie Godfrey, PhD

Genetizen's blog