FDA Authorizes First Direct-to-Consumer Genetic Test for Three BRCA Mutations


The agency determined the Personal Genome Service Genetic Health Risk (GHR) Report is accurate and can provide reproducible results.

The Food and Drug Administration (FDA) authorized the first direct-to-consumer test designed to report on three specific BRCA1/BRCA2 gene mutations.

The Personal Genome Service Genetic Health Risk (GHR) Report analyzes DNA collected from a self-collected saliva sample. The report then describes if a woman is at an increased risk for developing breast and ovarian cancer, and if a man is at an increased risk for developing breast or prostate cancer.

After reviewing data for the test, the FDA determined that it is accurate and can provide reproducible results. In addition, the manufacturer submitted data that demonstrated test instructions were generally easy to follow and understood by a consumer.

“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 a press release.

The test — which reports on the mutations that are most common in people of Ashkenazi Jewish descent – only detects three out of more than 1,000 known BRCA mutations, meaning a negative result does not rule out the possibility that an individual still carries other BRCA mutations that may increase risk for cancer.

“While 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,” explained St. Pierre. “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.”

In turn, the FDA warned that consumers and health care professionals should not use the test results to determine any treatments, including anti-hormone therapies and prophylactic removal of the breasts or ovaries. Confirmatory testing and genetic counseling are still required in these instances.

“It is important for patients to consult their health care professional who can help them understand how these factors impact their individual cancer risk and what they can do to modify that risk,” the release said.

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