A few years back, I learned of a patient who had her DNA tested by one company and then interpreted by another. She sought help when data from the third-party company suggested she was at increased genetic risk for breast cancer. Concern over what had been identified in the interpretation report ultimately led this patient to see a genetic counselor — a trained professional who can advise on the genetic risks for various diseases. The counselor eventually determined the result was nothing to worry about.
For me, this “false positive” case raised red flags about a sometimes dodgy do-it-youself world of genetics.
[T[he validity of genetic tests to which consumers have direct access remains questionable. In fact, a recent article by scientists at one of the clinical testing labs that medical providers rely on reported that approximately 40 percent of results reported from raw DNA interpretation were incorrect.
Genetic counselors, meanwhile, are frustrated. The message from commercial testing companies has led to unrealistic expectations from consumers about what they can learn about themselves. It’s challenging for counselors to correct misconceptions, especially when they are met with resistance from patients.
If 2017 was the year commercial direct-to-consumer testing exploded, 2018 may be the year users rethink the value of this gift — or at least how to use it.
Editor’s note: Catharine Wang is a behavioral scientist at Boston University
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