Perspective from Sancy Leachman, MD, PhD
March 06, 2018
3 min read

FDA authorizes direct-to-consumer genetic test for three BRCA mutations

Perspective from Sancy Leachman, MD, PhD
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The FDA authorized marketing the direct-to-consumer Personal Genome Service Genetic Health Risk Report for three mutations of BRCA1 and BRCA2 most common among people of Eastern European Ashkenazi Jewish descent, according to a press release.

The test — marketed by 23andMe — analyzes DNA using self-collected saliva samples to determine whether a woman is at increased risk for breast and ovarian cancer and whether a man is at increased risk for breast or prostate cancer.

“This test provides information to certain individuals who may be at increased breast, ovarian or prostate cancer risk and who might not otherwise get genetic screening and is a step forward in the availability of [direct-to-consumer] genetic tests. But it has a lot of caveats,” Donald St. Pierre, acting director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health, said in the release.

“[Although] the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations and most BRCA mutations that increase an individual’s risk are not detected by this test,” he said. “The test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk.”

The FDA based this authorization on company-submitted data on test accuracy, user comprehension studies and representative test reports that provide information about how to interpret results.

This test should not be used to determine treatment. Additionally, because of the limited number of evaluated mutations, a negative result from this test could still mean that a person has an increased risk for cancer due to other genetic mutations.

Along with this authorization, the FDA released special controls for the test to provide criteria for safety and efficacy.

The FDA granted the marketing authorization to 23andMe.