In what is being hailed as "a milestone for consumer genetics," personal genomics company 23andMe (Mountain View, Calif.) received U.S. Food and Drug Administration (FDA) approval to launch a revamped direct- to-consumer genetic test that includes reports on 60 carrier status, wellness, trait, and ancestry findings.
The late October launch of its overhauled test comes nearly two years after the FDA ordered the company to stop providing its health risk assessment test and just a week after the company raised $115 million in new funding. The revamped test costs $199 for 35 carrier status reports for autosomal recessive conditions including cystic fibrosis, sickle cell anemia, and hereditary hearing loss; four wellness reports including assessments related to caffeine consumption, lactose intolerance, alcohol flush reaction, and muscle composition; and more than 19 trait reports on hair, facial features, and taste and smell preferences. Notably, the new product lacks disease risk testing and pharmacogenomic evaluation.
"They are still a long way away from getting back to where they were, returning results about people’s relative lifetime risks of developing various deleterious health conditions," Michelle Meyer, a bioethicist and legal scholar at the Icahn School of Medicine at Mount Sinai in New York, told Nature, although 23andMe says it will keep pressing to offer more health testing to consumers.
In the Oct. 27 Federal Register, the FDA issued a final order explaining how labs can legally commercialize carrier screening tests that are 510(k) exempt. The agency classifies an autosomal recessive carrier screening gene mutation detection system as a class II medical device with special controls. The device is assigned the generic name "autosomal recessive carrier screening gene mutation detection system." The FDA defines this over-the-counter test as "qualitative in vitro molecular diagnostic system used for genotyping of clinically relevant variants in genomic DNA" and says they are not intended for copy number variation, or cytogenetic or biochemical testing.
FDA special controls require, among other things, that the device manufacturer provide information about how to obtain access to a board-certified clinical molecular geneticist or equivalent to assist in pre-and post-test counseling; specific labeling about the gene and associated variants tested along with evidence of "scientifically established clinical validity;" and the manufacturer must conduct a study that assesses user comprehension of the device’s labeling and test process, with a minimum of a 90 percent or greater overall comprehension rate. Additionally, the manufacturer must provide warnings recommending consultation with a health care provider, particularly for positive results.
Takeaway: 23andMe’s return to the direct-toconsumer genetic testing market signals the beginning of a regulatory path forward that could enable considerable growth to the market that has been stalled since the FDA’s warning letter to the company nearly two years ago.