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April 2007 Posts
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Minnesota Gene Pool Blog

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April 26, 2007

Best news of the day

According to the New York Times, eating dark chocolate is almost as effective in lowering blood pressure as the most common anthypertensive drugs.

Four of the five studies on chocolate found reduced blood pressure after eating, but none of the tea studies showed significant benefit. The magnitude of the effect of eating three and a half ounces of dark chocolate a day was clinically significant, comparable to that of beta-blockers like atenolol, known by the brand name Tenormin, or propranolol, known as Inderal. The authors acknowledge that the studies were short and that results may not apply to habitual use.

The full report can be found in the April 9 issue of The Archives of Internal Medicine.

Thinking about genetics, genomics and Minnesotans with disabilities

I often have some of my best conversations via e-mail with my colleagues at the Minnesota Department of Health. They challenge me again and again to make genomics relevant for the populations they care about and for whom they provide services and support. Today, it was in such a conversatin with my friend, Evelyn, that I had a chance to think again of how I might contribute to her passion, which is to help assure the health of Minnesotans with disabilities. So, now I am on a new quest. Here are the questions that I am considering.

1) what do we know of how genetics / genomics contributes to the etiology or progression of major disabilities (e.g. cerebral palsy, developmental disabilities, traumatic injury, etc.) either as an underlying cause, a contributing factor or in helping to heal or adjust after an insult or injury;

2) what do we know about the genetics / genomics of common health conditions that are part of the spectrum of specific conditions or syndromes (e.g. Down Syndrome and Alzheimer disease; cystic fibrosis and diabetes);

3) what do we know about the genetics / genomics of common, chronic diseases that affect significant proportions of the whole population (e.g. coronary artery disease, breast cancer, diabetes, etc.) that also affect people with disabilities; and

4) And last, but most importantly, what are the opportunities for applying this developing knowledge to better the lives and health of people with disabilities and the other constituencies we serve?

I know parts of the answers to each of these, but am thinking I need to do a more comprehensive, a more "genomic" consideration of these issues. If anybody who reads this has any ideas on any of these issues, please pass them along in the comments.

Studies Find More Genes Underlying Diabetes

The New York Times has a report today on the discovery of several new genes that contribute to the susceptiblity for developing diabetes. These new discoveries suggest several pathways that have not been previously considered as contributing to the development and pathogenesis of diabetes. According the NY Times report:

The importance of the new genes is that they point to previously unknown pathways involved in diabetes. Dr. Altshuler agreed with Dr. Stefansson’s view that DeCode’s TF7C2 gene has the largest effect on diabetes but said the other genes provide new insights regardless of the size of their effects. "The fact that none of the genes found were on anyone’s radar screen shows how much there is to learn," he said.

"I tip my hat to DeCode," he said. "But the technology is now widely available," and in his view the only barrier to other teams contributing to gene discovery is for them to maintain the high standards of statistical rigor developed by the three academic consortiums.

Several of the new variant genes make the pancreatic beta cells produce less insulin, Dr. Altshuler said. That suggests that diabetes may start as a disease of too little insulin production, even though patients turn up in the doctor’s office making too much insulin, to which their tissues have become resistant. "A year ago, no one was talking this way, but now when you go to a meeting, people are scratching their heads and saying ’Could this be true?’" Dr. Altshuler said.

This is exciting news in itself, but the researchers involved, who represent the the Broad Institute, the University of Michigan, the University of Oxford, belive that the relatively hard slog of the last few years to find genes that contribute to chronic disease susceptibility may be coming to an end. With new technologies, a large number of single nucleotide polymorphisms (SNP's), and the almost completed Haplotype map of the human genome, researchers interested in the genetic and genomic underpinnings of chronic diseases are poised to enter into a new era of discovery.

Several researchers said that the new diabetes studies, and a forthcoming report on seven major diseases prepared by the Welcome Trust in London, marked a turning point in the pursuit of the genes that underlie such common diseases as diabetes, stroke, cancer and schizophrenia. The variant genes are common but each makes only a small contribution to disease, rendering them hard to identify.

There is considerable overlap in the diabetes genes in today’s four reports, giving the authors confidence that at last their whole genome association method is producing reliable results.

Could it be we are about to enter a golden age for discovering the genetic elements that contribute to risk for most of the diseases that affect humankind? The signs appear promising, but we will have to wait and see what develops on the next weeks and months.

Genetic Information Nondiscrimination Act passes in the US House of Representatives

The US House of Representatives passed the measure (HR 493) 420 to 3, so this legislation had strong bi-partisan support. The Senate has passed this legislation in two previous Congresses, so it is expected it will pass there, when brought to a vote. The Genetic Information Nondiscrimination Act has been chosen as a priority issue for the current Congressional leadership. President Bush has indicated that he will sign this legislation into law when it comes to his desk.

This is very good news.

From the Genetics and Public Policy Center at Johns Hopkins University, this announcement came out yesterday.

April 25, 2007
Genetic Information Nondiscrimination Act passes House

The House of Representatives passed the
Genetic Information Nondiscrimination Act (GINA) of
2007 on Wednesday, April 25. GINA is expected to
pass the Senate and be signed into law in the coming

Despite widespread, longstanding agreement among
American citizens and politicians that protection from
genetic discrimination should be clear and consistent,
individuals' genetic information has, to this point, been
protected only by a largely untested patchwork of state
and federal regulations. Ninety-two percent of
Americans are concerned that results of a genetic test
that tells a patient whether he or she is at increased
risk for a disease like cancer could be used in ways
that are harmful to the person, and most believe that
employers and health insurers should not have
access to this information.

The threat of genetic discrimination has hindered both
genetic research and clinical practice. Linking gene
variants to health outcomes often requires studies
involving large numbers of people, but scientists
report that many potential subjects are deterred by the
fear that their information could be used against them
by employers or insurers. Thus research is impeded
that would help to bring about the much-heralded era
of personalized medicine. Meanwhile, individual
patients who could benefit from genetic testing have
sometimes foregone it out of concern over possible
repercussions. When people opt not to be tested, they
lose the opportunity to seek monitoring and preventive
care to avoid conditions for which they are at higher

The Senate unanimously passed versions of GINA in
2003 and 2005, but in both years the bill stalled in
committee in the House. President Bush has
indicated he will sign the bill into law.

More Information:

Find HR 493 (GINA)
on Thomas (

. Public Opinion on Uses of Genetic Information and
Genetic Discrimination (

Issue brief: The impact of genetic discrimination (

Summary of a recent hearing on GINA by the House Energy and Commerce Committee's Subcommittee on Health

Contact Information
phone: (202) 663-5971
web: ( )

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