Follow-Up: Genetic Disease Testing and the FDA

In June, I published a post on genetic disease testing after the highly publicized double mastectomy of actress Angelina Jolie, who had the procedure after a genetic screen showed she possessed a version of the BRCA1 gene associated with breast cancer. Consumer genomics has since garnered attention from the US Food and Drug Administration, which claims that manufacturers of home genetics kits are effectively selling unlicensed medical devices. The FDA’s scrutiny of genetic testing recently escalated in a strongly worded letter sent to Anne Wojcicki, the CEO of 23andMe, the largest American manufacturer of these tests.

Anne Wojcicki, CEO of 23andMe, courtesy of 23andMe.

In this warning letter, FDA director of in vitro diagnostics and radiological health Alberto Gutierrez ordered 23andMe to “immediately discontinue marketing the PGS [Personal Genome Service, the company’s genetic testing kit] until such time as it receives FDA marketing authorization for the device.” Although the company has previously attempted to register some of the tests included in the PGS under 510(k) applications, which bypass costly clinical trials by proving that a test is substantially the same as one already on the market, the FDA claims that these efforts are insufficient for the long list of conditions assayed by the kit

The letter focuses on the risks of false positives and negatives, using the same BRCA test that Jolie took as an example. “[I]f the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist.”

Wojcicki has apologized for her company’s failures to comply with the FDA’s past information requests, saying that “We stand behind the data that we return to customers—but we recognize that the FDA needs to be convinced of the quality of our data as well.” However, the company has issued no comment on whether it will discontinue sales of its kits while it prepares regulatory submissions to the government.

UPDATE: 23andMe has announced that while it will continue to sell its kits, it will restrict the results of the tests it releases to its customers to ancestry and raw data. None of the company’s previous health-related claims will be included.

Advertisements