By Kelly A. Briganti, JD, Editorial Director, G2 Intelligence
Only a little more than a year after receiving an FDA warning letter telling 23andMe to stop marketing its direct-to-consumer Personal Genome Service, the company finally has a bit of good news. The FDA authorized 23andMe to market the company’s Bloom Syndrome direct-to-consumer genetic test for screening potential carriers of the disorder.
The FDA also categorized carrier screening tests as Class II devices and exempts them from premarket review. The FDA press release announcing the 23andMe authorization indicates the agency will be issuing a notice with 30-day public comment period regarding its intention to provide such exemption. In the announcement, the FDA also acknowledges that in many cases it is appropriate for patients to have direct access to personal genetic information.
23andMe conducted the following studies to demonstrate accuracy and usability of the test:
- A study involving two laboratories and 70 samples (including known carriers) and a separate study with 105 samples; these studies yielded “equivalent results in detecting carrier status of Bloom syndrome when the same samples were tested”;
- A usability study involving 302 people unfamiliar with the company’s collection device to determine if they could follow the instructions and properly “collect an adequate saliva sample”; and
- A user study involving 667 randomly selected individuals to demonstrate users could understand and follow the test kit instructions.
The FDA’s authorization requires that patients receive results in a format they can “understand and use” as with other home use tests. The FDA also requires that the labeling for the test explain to users what the results “might mean for prospective parents interested in seeing if they carry a genetic disorder.” Additionally, “[i]f sold over the counter, the FDA is also requiring 23andMe to provide information to consumers about how to obtain access to a board-certified clinical molecular geneticist or equivalent to assist in pre- and post-test counseling.” These requirements are not surprising. The FDA expressed concerns in its 2013 Warning Letter to 23andMe requiring removal of the Personal Genome Service from U.S. markets about the risk users of direct-to-consumer genetic tests wouldn’t understand and be able to properly use the results.