Talk

Amy Harmon looks at the issue of privacy, fear of discrimination, and the very real repercussions some people are facing as a result of the tension between important medical information and lack of comprehensive legislation to protect patients’ genetic privacy.

She quotes Francis Collins, director of the National Human Genome Research Institute at the NIH, “It’s pretty clear that the public is afraid of taking advantage of genetic testing. If that continues, the future of medicine that we would all like to see happen stands the chance of being dead on arrival.”

I don’t think it’s as dire as that, but all of us — patients, physicians, industry and thought leaders — need to push for systemic solutions. Genetic testing is redefining the practice of medicine, and our convoluted infrastructure of delivering healthcare needs to adjust to accommodate it.

Harmon’s profiles of people who have chosen to test, not to test, and to test anonymously by paying for testing themselves illustrate how this tension has a fundamental impact on peoples’ health and families’ lives: (more…)

Big news this week on new risks associated with a gene related to iron overload disease (aka hemochromatosis). A large Danish study published in the journal Neurology reports that people with certain mutations that cause hereditary hemochromatosis also have a two- to three-times risk for stroke (that’s double or triple the risk of the average joe).

Reuters summary:

Of all the various combinations of these mutations, only patients with two copies of H63D had a significantly increased risk of cerebrovascular disease and ischemic stroke, a stroke caused by a blockage in an artery in the brain, which cuts off the blood supply.

“This type of gene has previously been associated with brain diseases such as Alzheimer’s disease, Parkinson disease, ALS, multiple sclerosis, and cerebrovascular disease, but this is the first time we’ve been able to determine this gene predicts such a significant increased risk of stroke,” senior author Borge G. Nordestgaard, from Herlev University Hospital in Denmark, said in a statement. …

[T]wo copies of the H63D gene increased the risk of ischemic cerebrovascular disease by 2.1-fold and the risk of ischemic stroke by 2.8-fold. By contrast, individuals with hemochromatosis with other gene patterns did not have an increase in either of these risks.

The big question now is, how does this gene (which affects the regulation of iron at a cellular level) influence risk for stroke?

Hemochromatosis is an iron overload disease that affects around 1.5 million Americans, and probably accounts for 15 percent of the cases of adult onset diabetes. It can be caused by genes, or by non-genetic factors, or by a combination of factors. If hemochromatosis is diagnosed early, treatment can very effective and the long-term effects of iron overload can be prevented.

• More about Hemochromatosis
• Genetic testing for hemochromatosis (C282Y, H63D, S65C)

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