What it does: The test, which will be available through 23andMe's $199 health and ancestry service, reports three genetic variants found on the BRCA1 and BRCA2 genes that are most common in people of Ashkenazi Jewish descent. However, even prescription-ordered genetic testing is not 100% conclusive that a person will develop cancer or not.
The three variants in the BRCA1 and BRCA2 genes are associated with a significantly higher risk of breast and ovarian cancer in women, and breast cancer in men. It's the first at-home BRCA1/BRCA2 screening tool to be approved for use in the USA, and could significantly raise the number of people aware of having the cancer-related mutations.
For the first time the FDA has granted permission to market a direct-to-consumer genetic test to check for BRCA mutations that are associated with breast and ovarian cancer. The test can identify three specific BRCA mutations that occur most often in people of Ashkenazi Jewish descent.
Donald St. Pierre of the FDA's Office of In Vitro Diagnostics and Radiological Health said in a statement announcing the approval that the test is intended for people who might not otherwise get genetic testing, adding that "it has a lot of caveats". The test should not be used as a substitute for regular cancer screenings, he said. "Having a negative result for this test does not mean you don't have to worry about anything else", said Elrefai. The agency also noted that a majority of cancers are caused by lifestyle factors, such as smoking, obesity, hormones, and other habits.
The Food and Drug Administration decision is a step forward for the evolving world of consumer genomics.
The FDA said that while this test provides detection of a BRCA mutation, only a small percentage of Americans carry one of the variants. The evaluation, through the FDA's pathway for novel, moderate-risk medical devices, required greater than 99 percent accuracy and repeatability for the assay to be approved. To win approval, the company submitted data showing its instructions and reports are easy to understand. Test results come in the form of a report sent to the user. These special controls, when met along with general controls, provide reasonable assurance of safety and effectiveness for this test.