FDA Authorizes Direct-to-Consumer Test That Reports on 3 BRCA Mutations

The FDA has authorized 23andMe’s Personal Genome Service Genetic Health Risk (GHR) Report for select BRCA mutations. According to a press release from the FDA, this is the first direct-to-consumer (DTC) test to report on 3 specific BRCA1/BRCA2 breast cancer gene mutations that are most common in people of Ashkenazi (Eastern European) Jewish descent.

The test examines DNA collected from a self-administered saliva sample determines whether a woman is at an increased risk of developing breast and ovarian cancer, and if a man is at an increased risk of developing breast cancer or may have an increased risk of developing prostate cancer.

The FDA’s authorization of the test, with special controls, was the result of a review concluding that the company provided sufficient data showing that the test is accurate and can provide reproducible results. 23andMe submitted data on user comprehensive studies, using representative GHR test reports, that showed instructions and reports were generally easy to follow and understand, according to the release. The test also provides consumers information explaining what results might mean, how to interpret the results, and where additional information may be found.

“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 DTC genetic tests,” said Donald St Pierre, acting director, Office of In Vitro Diagnostics and Radiological Health, FDA’s Center for Devices and Radiological Health, in a statement. However, St Pierre warned that there are caveats.

The test only detects 3 out of more than 1000 known BRCA mutations, which means that a negative result does not rule out the possibility that a person carries other BRCA mutations that put them at an increased cancer risk. While these 3 mutations are the most common in those of Ashkenazi Jewish descent, they are not the most common BRCA1/BRCA2 mutations in the general population and rarely occur in other ethnic populations (0%-0.1%).

According to Pierre, the test should not be used as a substitute for seeing a doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk. The press release emphasized that consumers and healthcare professionals should not use the test results to determine any treatments, including anti-hormone therapies and prophylactic removal of the breasts or ovaries.

“Additionally, most cases of cancer are not causes by hereditary gene mutations but are thought to be caused by a wide variety of factors, including smoking, obesity, hormone use, and other lifestyle issues,” stated the press release. “For all of these reasons, it is important for patients to consult their healthcare professional who can help them understand how these factors impact their individual cancer risk and what they can do to modify the risk.”