Talk

I’d say that this year’s stories ran the spectrum from “what’s in our genome?” to “what does it say about us?” to “what should we do with that information?” Yes, here’s science to policy in six easy pieces!

Diabetes Risk Genes Are Confirmed. The body of research behind this discovery is impressive, covering populations around the world and all hitting publication in a very short window of time. (I think Denise Grady, a health journalist at the New York Times captured this best with the context of a personal perspective.) With news about Americans’ skyrocketing diabetes rates, our overweight children, and our heaviest nation status, you’d think this genetic news would have made a bigger splash. Stay tuned in 2007 and let’s see what happens once testing becomes available.

The FDA Recommends Relabeling Tamoxifen - In October, the FDA met to review a compelling body of research that shows 7-10% of people may not receive medical benefit of tamoxifen, because of their 2D6 genes. This is an historic first for pharmacogenetics: it’s the first time FDA has recommended relabelling for the effectiveness of a drug, not just toxicity warnings (e.g. atomoxetine/Strattera for ADHD). It’s also notable that certain SSRIs, particularly Paxil, interfere with the metabolism of tamoxifen just like these genes do - so taking both Paxil and tamoxifen effectively cancels out the benefit of the tamoxifen. Please indulge me as I proudly say that my company is on the ball - we began providing this genetic test to consumers and doctors in October, right after the FDA’s recommendation came out.

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Nutrigenomics - the study of how your genes and your diet interact to affect your health - has gained a lot of attention this year as a result of the promise it holds, and the perennial salesmen who are always trying to make a buck off the newest fad.

A team of team of researchers at Economic and Social Research Council (ESRC) Centre of Genomics in Society at the University of Exeter are lauching a study to find out what’s truth and what’s (science) fiction.

The BBC News reports:

Research has been carried out which has suggested some links between genetic variations and being vulnerable to certain illnesses or disorders which might react to certain diets.

But work has not yet been done which shows the reverse - that eating a certain diet can protect against a disease which your genes make you vulnerable to.

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If you’re 50 years old or older, you’ve been told “Time to get a colonoscopy.” But have you done it? Not exactly the birthday present you’d like, eh?

Everyone should do it, no one wants to, and until now we’ve thought it’s the best way to prevent colon cancer — which is the third most common cancer in the U.S. and the most preventable.

Colonoscopy is the “gold standard” for screening - meaning all the docs say it’s the very best way to detect colon cancer and pre-cancerous polyps. But today’s NY Times has an illuminating article about this:

[A] new study, published today in The New England Journal of Medicine, provides a graphic illustration of how wrong that assumption can be, gastroenterologists say. The study, of 12 highly experienced board-certified gastroenterologists in private practice, found some were 10 times better than others at finding adenomas, the polyps that can turn into cancer. One factor distinguishing the physicians who found many adenomas from those who found few was the amount of time spent examining the colon….

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In the December 6th issue of Journal of the National Cancer Institute, researchers report that BRCA1 and BRCA2 mutations are more common than has been generally thought, and they seem to be associated with a greater risk for a number of cancers.

However, as lead investigator Dr. Harvey A. Risch told Reuters Health,

“For breast and ovarian cancer and perhaps other cancers as well, the lifetime risks for carriers of BRCA1 and BRCA2 mutations are not uniform — they depend on exactly which mutation is carried. Some mutations have higher risks and some have lower risks.”

The risk of cancer also appears to be related to the position of the mutation on the gene.

Abstract: Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin-Cohort Study in Ontario, Canada. Journal of the National Cancer Institute, Vol 98(23), 6 December 2006, pp. 1694-1706(13).

Technorati Tags: cancer, cancer risk, risk factor, brca1, brca2, genes, genetic risk, research news

Mayo Clinic researchers have discovered a protein interaction that may explain how the deadly Huntington’s disease affects the brain.

The findings…show how the mutated Huntington’s protein interacts with another protein to cause dramatic accumulation of cholesterol in the brain. “Cholesterol is essential for promoting the connection network among brain cells and in maintaining their membrane integrity. Both the level of cholesterol and its delivery to the proper locations in the cell are essential for the survival of neurons,” explains Mayo Clinic molecular biologist Cynthia McMurrary, Ph.D.

“Our discovery that the mutant Huntington’s disease protein derails the cholesterol delivery system and causes cholesterol accumulation in neurons provides us with key results and solid clues to the mechanism of this disease,” says Dr. McMurray. “Fully understanding the mechanism of toxicity is the key to developing treatments.”

• Read more about this discovery at Science Daily News and from Pure Pedantry
• Learn more about the genetics behind Huntington’s disease in Hsien Lei’s Chromosome Parade
• Newsweek recently profiled a family who used PGD to avoid passing Huntington’s disease on to their children

Technorati Tags: huntington’s disease, research, cholesterol, protein, treatment

“Will insurance cover my genetic test?” is one of the most popular - perhaps the most popular - question we get at DNA Direct. For some genetic tests, the answer is pretty straightforward (”probably, here’s why…”). For other genetic tests, it’s more complicated.

Recently the magazine, Managed Care, ran a detailed article about exactly this issue. It begins with scenarios in which insurance company medical directors granted and denied coverage for genetic tests, and why:

• “It can’t be a fishing expedition.” Coverage denied for a handful of genetic tests.
• “This is the role genetic testing should play — when all else has been eliminated.” Coverage granted for Fragile X testing.

Of more interest to me is the detailed exploration, from the position of the insurance companies, how their policies and coverage is evolving in the face of cheaper genetic testing, patient fears of genetic discrimination, and the advent of personalized medicine.

Here’s one perspective, from an insurance company: (more…)

Are you generally curious about genetic testing? I highly recommend reading “Peering Into the Future“, which ran in the latest issue of Newsweek.

Genetic testing is transforming medicine—and the way families think about their health. As science unlocks the intricate secrets of DNA, we face difficult choices and new challenges.

You name it, this article covers it: the $1000 genome, pre-implantation genetic diagnosis to prevent passing on serious genetic diseases to children, Huntington’s disease, the development of early-onset Alzheimer’s gene testing (could be as early as 5 years down the road, says the expert quoted), buyer beware warnings about internet companies that sell dubious genetic tests and product “solutions” such as vitamins — and more. The families interviewed put a very personal lens on issues that too often fall prey to high-minded discussion.

Personally, it makes me happy to see a thoughtful, even-handed discussion about the current (and near-future) state of genetic testing that isn’t sensationalistic, scare-mongering, or science fiction.

Technorati Tags: genetic testing, 00 genome, pgd, huntington’s disease, alzheimer’s disease, nutrigenomics

Since DNA Direct first began offering CYP2D6 testing for tamoxifen efficacy last month, we’ve had calls from women asking, “how come my doctor didn’t recommend this?” and “why doesn’t my doctor know about this?”

Dr. Kevin Knopf, a respected medical oncologist who specializes in breast cancer, has an explanation in his post this week “Something to Worry About? Tamoxifen Effectiveness.” He wrote this post upon first learning about tamoxifen and 2D6 — from his newspaper. He says:

It is also interesting how oncologists and other doctors find out about news this big – were it not for my newspaper I don’t know when it would first come to my attention (I’ll let you know next month!) When I asked my partner if he had heard about it, it was news to him. There are often no “mass broadcasts” of “breaking news” –e.g. nothing on my email yet. So this can create anxiety for patients who might see something before their oncologist does. I think the best approach would be to let the information get absorbed prior to making any decisions about tamoxifen and to seek guidance from your personal oncologist.

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