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No One Really Knows What Most Genetic Tests Mean

Photo of Dr Armstrong

Dr. Armstrong

Genetic testing is all the rage. Thousands of tests are now available over the Internet, costing people anything from $60 to $3000 per test. While some DNA sequences are fairly well understood (like the BrCA gene or the chromosomal anomaly that causes Down’s Syndrome), most of them are only loosely associated with specific diseases and health outcomes. Experts agree that one day we’ll have a better understanding of the complex interplay of multiple gene sequences, but that day is still far off.

A recent post at GigaOM (h/t to KevinMD ) was critical of genetic testing in general, noting its potentially prohibitively expensive consequences:

Somewhere between 10 and 50 percent of autopsies reveal diseases other than the one that killed the patient. If consumers test themselves, then tell their doctors, the medical system could wind up treating 50 percent more diseases than it does today — even those that wouldn’t have killed the patient.

I interviewed Dr. Joanne Armstrong, senior medical director for Aetna, and assistant professor of obstetrics and gynecology at Baylor College of Medicine in Houston, Texas, about the current state of genetic testing. To listen to the full conversation, please click here.

Dr. Val: First of all, could you tell me a little bit about your work, and what got you interested in genetics in the first place?

Dr. Armstrong: I am the head of the Women’s Health division of Aetna, and about 8 years ago when BrCA testing (the test for predisposition to breast and ovarian cancer) became widely available, I began thinking about the educational initiatives that needed to support this testing. I knew that it would become part of mainstream medical practice and wanted to make sure that patients understood the tests and what to do about them.

Dr. Val: In your view, what are some legitimate and appropriate genetic tests?

Dr. Armstrong: There are about 1200 genetic tests available now, and most of them are not medically appropriate or clinically valid. Read more »

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