The FDA has authorized, with special controls, the first direct-to-consumer (DTC) test to report specific BRCA1/BRCA2 breast cancer gene mutations. The authorization means 23andMe, the personal genetics company, can now provide its customers with information on three variants found in the BRCA1 and BRCA2 genes associated with a higher risk of breast, ovarian and prostate cancer. No prescription is required.
The gene variants in question are more common in individuals of Ashkenazi (Eastern European) Jewish descent. Approximately one in 40 individuals of Ashkenazi Jewish descent has one of these three variants, according to 23andMe. The 23andMe Personal Genome Service submission for the BRCA/BRCA2 (Selected Variants) Genetic Health Risk report will only test for these three BRCA mutations.
“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,” 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 prepared statement. “But it has a lot of caveats. 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. 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 reviewed data for 23andMe’s DTC test through the de novo premarket review pathway. The agency is also establishing “special controls” that make its expectations clear in “assuring the test’s accuracy, reproducibility, clinical performance and labeling.”
“Being the first and only direct-to-consumer genetics company to receive FDA authorization to test for cancer risk without a prescription is a major milestone for 23andMe and for the consumer,” said Anne Wojcicki, 23andMe CEO and co-founder, in a separate statement. “We believe it's important for consumers to have direct and affordable access to this potentially life-saving information. We will continue pioneering a path for greater access to health information, and promoting a more consumer-driven, preventative approach to healthcare.”