FDA Authorizes First Direct-to-Consumer Genetic Test for Cancer

23andMe, Inc. has received authorization from the FDA for the first-ever direct-to-consumer genetic test for cancer risk.

The authorization allows customers to test themselves for information on 3 genetic variants found on theBRCA1andBRCA2genes, which are associated with higher risk for breast, ovarian, and prostate cancer. The company says the 23andMeBRCA1/BRCA2(Selected Variants) Genetic Health Risk Report demonstrated accuracy greater than 99% concordance to Sanger sequencing and precision greater than 99% reproducibility and repeatability.

“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,” 23andMe CEO and founder Anne Wojcicki said in a press release. “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 health care.”

The report uses qualitative genotyping to detect certain clinically relevant variants in genomic DNA isolated from human saliva for the purpose of reporting and interpreting genetic health risks. The 23andMe Genetic Health Risk Report forBRCA1/BRCA2(Selected Variants) is indicated for reporting of the 185delAG and 5382insC variants in theBRCA1gene and the 6174delT variant in theBRCA2gene.

These variants are most prevalent in people of Ashkenazi Jewish descent—about 1 in 40 individuals of Ashkenazi Jewish descent carries at least 1 variant. Women with a variant have a 45% to 85% chance of developing breast cancer by age 70.

Consistent with those previous findings, 23andMe found that of thoseBRCAcarriers who gave family medical history, about half reported no history of cancer in first-degree relatives. 23andMe has also found that many of its customers for whom Ashkenazi Jewish ancestry was detected did not self-report any Jewish ancestry, and these individuals might fall outside the guidelines of clinical testing.

“This authorization is incredibly valuable for those who might not be aware of their Ashkenazi Jewish descent or aren’t familiar with their family history of cancer,” Wojcicki said. “But it’s important to understand that the majority of cancer is not hereditary, our test does not account for all genetic variants that can cause a higher risk of cancer, and people should continue with their recommended cancer screenings.”

However, the FDA mentioned in a press release upon announcement of the approval that these mutations appear in ≥0.1% of the general population, and that the test only detects 3 out of more than 1000 knownBRCAmutations. Therefore, a negative result does not rule out the possibility that an individual could carry otherBRCAmutations associated with increased cancer risk.

“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. “While the detection of aBRCAmutation on this test does indicate an increased risk, only a small percentage of Americans carry 1 of these 3 mutations and mostBRCAmutations 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 agency warns 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. Such decisions require confirmatory testing and genetic counseling. The test also does not provide information on a person’s overall risk of developing any type of cancer. The use of the test carries significant risks if individuals use the test results without consulting a physician or genetic counselor.