The FDA has approved 23andMe (Mountain View, CA)'s direct-to-consumer genetic test. The first of its kind, the test uses the Illumina HumanOmniExpress-24 format chip and consists of a fully custom panel of probes for detecting genetic variations.
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23andMe met the FDA's premarket requirements to demonstrate the following: accuracy, validity, and user comprehension. Specifically, this process validated the company's spit test kit and chip array platform for determining whether or not an individual is a carrier for the genetic markers for Bloom syndrome (a rare disorder that is more common in people of Central and Eastern European, or Ashkenazi, Jewish background). The company also conducted extensive comprehension studies with consumers from different backgrounds, education levels, and incomes.
An accuracy study was performed at two lab sites with 70 samples. The samples included 65 saliva samples and five human cell line samples with known BLMAsh variant status. Results of the PGS test for Bloom syndrome were compared with sequencing results. The results of the study gave an agreement of 70 out of 70 samples.
For the validation study, a total of 2880 sample replicates were run under standard 23andMe laboratory procedures. An additional study was performed using 105 saliva samples without the BLMAsh variant. The samples were tested by comparing results between the two 23andMe laboratory sites.
A user comprehension study was performed to assess how well people understand the preimplantation genetic screening (PGS) Bloom syndrome carrier status test reports. A diverse group of people representative of U.S. demography reviewed and answered questions about the test report in a moderator controlled setting. In all the studies, more than 90 percent of participants indicated they understood the test results.
23andMe will not immediately begin returning Bloom Syndrome Carrier Status test results or other health results to customers until it completes the regulatory process for additional test reports and can offer a more comprehensive product offering.
For more information, please visit www.23andme.com.
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