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.



Eliminating "bad" genes

Senate Majority Leader Bill Frist (R-TN), in a letter to the editor of the Washington Post, said he was “gratified” when the Senate passed “legislation to protect Americans from discrimination on the basis of their genetics” and “hopes the House will act soon.” He believes such discrimination has not been a problem, that people are needlessly avoiding genetic testing for fear of genetic discrimination. In support of genetic testing, Frist proclaims:

In Israel, for example, a national testing campaign coupled with a computerized matching system has almost eliminated new cases of Tay-Sachs disease. More widespread genetic examination could produce similar results in the battles against breast cancer, sickle cell disease and other maladies.

read more | Genetizen's blog

Federal funding and embryonic stem cell research

Before the Christmas recess, there were rumors that a deal had been forged with Senator Frist--who controls the Senate calendar--to debate federal funding of embryonic stem cell research on the Senate floor. Whether or not that will happen is "iffy". The issue may still be too hot, considering the failure of the Hwang promises.

Meanwhile, with non-federal funding (and most likely a separate set of books to keep everything straight), the University of Wisconsin at Madison announced in Sunday's Nature Biotechnology that James Thomson and his colleagues have created an human embryonic stem cell line without using materials from other animals.

read more | Genetizen's blog

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 http://genes-r-us.uthscsa.edu/nbsdisorders.pdf. Don't expect to understand what many of the names mean. To learn more about specific conditions, and what treatment offers, look at www.doh.state.fl.us/cms/nbscreen-disorder.html. 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 (www.wikipedia.org)--an online wealth of information on many, many topics--in a number of different languages. Just search for "genetic testing".

Marie Godfrey, PhD

Genetizen's blog

Stem and tumor cells share some growth properties

The discussions about breast stem cells in today's news point out that stem cells and tumor cells both have the capacity to reproduce in ways outside of the normal body controls.

Mouse breast stem cells (recently discovered), when placed into a mouse whose breast tissue has been removed except for the "breast pad", will produce a functioning breast--including cells that produce milk.

Breast tumor cells, when they are malignant, will also reproduce. Unfortunately, the tissue they produce is chaotic and not of normal function.

Stem cells from other tissues, when transplanted into humans (eg, in bone marrow transplants) have also been found to sometimes result in cancerous growth.

read more | Genetizen's blog

Would you have allowed Bill Gates birth?

While reading an Arthur Caplan article today on stem cell research, I happened once again on his article about prenatal genetic testing--written in May of 2005.  Caplan uses Gates as an example of the questiion often asked about world personalities--if you had the choice as a parent of giving birth to a child with genetic problems, would you do it?

His message is that no one knows about the goods and the bads of our genetic heritage or what will happen when our environment works upon those genes.

I once asked a pediatric geneticist why people would have a fetus tested if they had no intention of aborting that fetus if they found something terribly wrong. He stated that some people simply want to know ahead of time, so they can be prepared. How would you behave if you knew you were expecting a child with Down syndrome?  There are m possibilities, only one of which is abortion.

read more | Genetizen's blog

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 http://msnbc.msn.com/id/10683107/

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.

read more | Genetizen's blog

Some stem cell research fizzles

In addition to the delays in Congressional debating on stem cells, several states are thinking twice about funding embryonic stem cell research. It is interesting that the same mantra keeps coming up, though:

While adult stem cells have produced treatments for dozens of diseases and conditions, embryonic stem cell research has yet to cure any patients and has problems with patients' immune systems rejecting the cells.

I was surprised to see that the website that used to keep track of adult stem cell progress is no longer functioning. It is interesting also, that the paragraph above doesn't mention that the key problem with any stem cell transfer is graft-vs-host disease, where the stem cell transplant (with any foreign cells) attacks the recipient's cells.

read more | Genetizen's blog

Similar test; way different price!

A Canadian firm, Scienta Health, is also offering a comprehensive genetic test to help people alter their lifestyles if needed. But their test is $2000.

The end of the article is interesting:

On his office computer, Mr. Zentil has kept a gag e-mail that recently made the rounds. It's an audio file of a man ordering pizza in 2010 from a company that has access to all his personal information. It charges him $60 extra for requesting double cheese, telling him it's a risky choice given his high cholesterol levels.

"Now that's scary," he said.

And I agree.

Marie Godfrey, PhD

Genetizen's blog

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 sciona.com. 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

Genetizen's blog

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.

read more | Genetizen's blog

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

 

Genetizen's blog

Separating genetic testing blog entries from those for stem cells

If you're interested in only genetic testing (or only in stem cells), you can see all blog entries on that subject by clicking on one entry in that subject on the right side of the page.

Then, look at the bottom of the blog entry, and you will see "genetic testing" (or "stem cells") in blue--on the right side of the entry. Click on this and all entries listed will be in that subject.

Marie Godfrey, PhD

Genetizen's blog

Answers to your questions about genetics

An excellent  source of  information on genetic testing and other aspects of genetics is available to you at http://ghr.nlm.nih.gov/info=understandGenetics

The site is easy to navigate and even allows you to see an entire topic without continuously "drilling down". The direct link to genetic testing information is http://ghr.nlm.nih.gov/info=genetic_testing

Meanwhile, I'll keep blogging about information that I find interesting--and hope you do, too.

Marie Godfrey, PhD

Genetizen's blog

The public vs. scientists

As issues such as intelligent design vs. evolution capture the media, Science magazine chose recent studies in evolution as their top breakthrough for the year. I did write and ask the editor whether stem cells would have been the big breakthrough if Hwang's research had not been so thoroughly trashed; but I've had no response yet.

Anyway, one of the major approaches in intelligent design vs. evolution is that the public who believes in the former is generally less well-informed or less intelligent than the scientists.

A recent study on public perceptions of genetics--published in Public Understanding of Science (Volume 14, p. 47-65; 2005 and available free on the web at http://pus.sagepub.com)--suggests otherwise. It finishes as follows:

Finally, the public must be treated as a complex body that is able to interpret messages about genetic science. The public is not composed of scientists, nor should it be. Just because the public does not have a highly technical background does not preclude them from making sensible judgments about genetic science and genetic technology. A person can drive a car perfectly well without understanding the physics of internal combustion or body shell design. These drivers are also allowed to express opinions on where roads should go, what the speed limit should be, and the relative importance of pollution, accidents, and noise to automotive policy. This public should also be trusted to make sense out of genetics research. Their input on where genetic technology should go, how quickly it should try to get there, and the potential ethical, legal, and social ramifications should be taken into consideration. Only by including public understanding and scientific understanding of genetics are we likely to avoid having potholes in the bridge to the twenty-first century.

Geneforum's goal of involving the public in decision-making about genetics certainly reflects this conclusion. We hope these ideas should be relied upon more often.

I, like many other scientists, have tended to think that the public needs to get all the "correct" information so they can agree with "our" view of things. The research study on public culture and public understanding of genetics--and the Geneforum approach--strongly suggests otherwise.

Marie Godfrey, PhD

Genetizen's blog

Ian Wilmut, Dolly's creator, suggests stem cell testing on terminally ill

I'm not sure what my own opinion is on the latest news from Ian Wilmut, the man whose lab created the first cloned sheep--Dolly--so I thought I'd give readers a special invitation to comment.

Wilmut is proposing that stem cell testing--especially for neurological conditions, which is currently considered ethically irresponsible because the perceived risks outweigh the potential benefits, be done on patients who are dying anyway. Says Wilmut, "I've come across people who have neuro-degenerative disease who face a steady, slow decline and premature death, a very unpleasant situation. They would be only too keen to participate in trials."

What do YOU think? It's easy to add a comment to this blog entry; just use the "Post new comment" (below). Your comment will appear on this website as soon as I confirm that your e-mail is not spam.

Marie Godfrey, PhD

Genetizen's blog