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Patients Armed With Their Own Genetic Data Raise Tough Questions

With the market for direct-to-consumer genetic testing expanding rapidly, clinicians are playing catch-up.

Recently, a middle-aged woman arrived at the Preventive Genomics Clinic at the University of California San Francisco (UCSF) asking for help with some troubling results from her 23andMe genetic test. She had initially bought 23andMe’s basic ancestry test but on a whim decided to upgrade her purchase to find out whether she had gene variants that are associated with a handful of diseases. The woman did not realize what exactly would be included in the detailed health report, which the Food and Drug Administration (FDA) allowed 23andMe to start marketing last year. When the results arrived, she learned that she had two copies of the APOE4 gene, which can increase the chance of developing Alzheimer’s about twelvefold.

She was “deeply upset,” says Bryce Mendelsohn, lead clinician at the UCSF clinic. Before finding her way to the clinic, the woman had bought books about preventing Alzheimer’s and started on a slew of unproven diets and supplements. This extreme response to test results “is not typical, but it happens and it can become disabling,” Mendelsohn says.

Read more in Health Affairs [behind paywall, contact me if you’d like full article]