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Personal Genomic Testing—Unnecessary Angst For Patients?

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After the FDA ordered 23andMe to discontinue marketing its personal genomic service last fall, the company changed its business model.

The company now offers "uninterrupted raw genetic data and ancestry-related reports." These new services haven't stopped the controversy. Theresa Rohr-Kirchgraber, the director of the IU National Center of Excellence in Women's Health, discusses genomic testing with host Barbara Lewis.

Interview highlights

Q. What's your notion of personal genomic testing?

A. "You have to question the validity of the test to begin with. Part of the validity of the test is knowing that the test means something. And that's where one of the biggest issues with this personal genomic service is for me. So you get a screen and you have a specific gene for a specific condition, but you don't have symptoms of that condition. There's no one in your family that's had that condition. What do you actually do with that information? I think the goal for any kind of screening test is to screen for something in which if you can help prevent that from occurring, you save time and you can save money, and you prevent disease."

Q. Do you ever order genetic testing on patients or use information based on their genetic risks? 

A. "There are very, very specific cases in which the genetic testing has been just fabulous. One example... specific genetic testing for breast cancer and ovarian carcinoma... If a mother comes in stating she was positive for a gene and developed breast cancer. And the doctor is now concerned that she is going to have the same potential. So we know doing the genetic testing on the daughter may give her some ability to be proactive in her own care. However, it's also not an absolute. It's definitely more likely if the mother has the gene and developed the disease, and the daughter has gene, then there's potential. But not necessarily. Having a gene in and of itself doesn't necessarily mean you will absolutely develop a condition in certain settings."

Q. Would you trust a report that's not from a health care provider?

A. "Numerous times I'll have the test redone because results do vary from lab to lab. It depends though on what the testing was for. There are a lot of tests out there that don't mean anything. So a lot of times it requires additional testing to either prove or disprove what the send-away test was being done."