What Is the Future of Medical Genetics?

BAR HARBOR, Maine -- More genetic knowledge has not always been a good thing.

When the first disease gene for Huntington's was discovered, it didn't lead to better treatment right away. But several patients who found out about their risk committed suicide.

"How human beings will take a piece of information may be different before they know the test and after they know the test," said Aravinda Chakravarti, a Johns Hopkins researcher.

He explained that many people want to know more about their genome, or hereditary information encoded in their DNA, only to find that once they have that information they can do little to prevent the disease it predicts.

As doctors and researchers gather at The Jackson Laboratory in Bar Harbor, Maine, for the 49th annual Short Course on Medical and Experimental Mammalian Genetics, they will discuss the latest advances in genetics, as well as an overview of changes showing how patients are treated in clinics by doctors. As the doses of the drugs we take are determined increasingly through a test of our genes, having someone who can explain the results of these genetic tests -- many of which are now available by mail order -- is more important than ever.

That may sound like a simple-sounding proposition, perhaps. But the number of tests for genetic diseases outnumbers biochemists trained in genetics in the United States by more than 3 to 1, and entire states are without a single physician who can explain the results of a genetic test.

In recent years, many sources have offered testing directly to consumers, without the promise of genetic counseling to accompany it.

"It's the Wild West right now, really, in this area," said Dr. Robert Nussbaum, the chief of medical genetics at the University of California, San Francisco.

Ada Hamosh, clinical director of the Institute for Genetic Medicine at Johns Hopkins, noted that the abundance of information can be a concern for physicians trained in genetics -- even more so for someone who has his or her test results but no way to interpret them.

"It's an enormous amount of partial knowledge. It's very overwhelming, from a clinical perspective," she said. "We're going to spend the next 50 years, at least, trying to figure all this stuff out."

The Doctor Will See Your Genes Now

Hamosh noted that it is important that patients bring their family history to their doctor so that their physician will know if there is a need for genetic testing. She said that even patients with a genetic diagnosis with no cure should still see a geneticist to help manage their condition, because of the speed of progress.

The thinking is, Hamosh says, "[If] I don't know something today, I will know more tomorrow."

Hamosh added that she never dismisses a patient who comes to see her, no matter how little is known about the condition. The only time she will stop seeing patients is if they see her about a condition their parents had that they clearly have not inherited.

In addition to finding new ways to treat genetic disorders, physicians also expressed hope for their use in determining drug dosing and delivery.

One example is Warfarin, the generic name of the anticoagulant known as Coumadin. Two to three million new prescriptions are written for it each year, according to UCSF's Nussbaum.

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