23andMe’s Approval Marks ‘Baby Step’ in DTC

While personal genetics company 23andMe (Mountain View, Calif.) was granted authority by the U.S. Food and Drug Administration (FDA) in late February to market the first direct-to-consumer (DTC) genetic test, experts say this does not mark a return to business-as-usual for the company. Rather, this approval marks a “baby step” in establishing a pathway for DTC testing to receive a regulatory nod and is notable for the FDA’s classification of carrier status testing as a class II device with low to moderate risk, exempting them from premarket review.

The approval of the carrier test for Bloom Syndrome, a rare, autosomal recessive disorder, comes just 15 months after 23andMe received an FDA warning letter calling for discontinuation of marketing of the company’s Personal Genome Service (PGS) due to a lack of submitted evidence of the service’s safety and evidence. Unlike PGS, a comprehensive DTC genetic assessment of 254 diseases and conditions, the Bloom Syndrome Carrier Status test is very limited in scope and results are very clear-cut.

“These DTC panels have not been very predictive for common diseases,” explains A. Cecile Janssens, Ph.D., Emory University (Atlanta). “The problem is in genes like BRCA 1/2, where thousands of mutations have been documented, but only a few are tested for. Compared to complex etiologies, like breast cancer, Bloom is a clear syndrome with a ‘simple’ genetic etiology. There is only one gene for the disease.”

While 23andMe founder and CEO Anne Wojcicki called the approval a “major milestone,” 23andMe said in a statement that the company would not immediately begin offering the Bloom Syndrome Carrier Status test “or other health results,” until it completes the regulatory process for additional tests and can offer “a more comprehensive product.”

Proponents of DTC hail this approval as affirmation of the right of consumers to understand their own genetic information. But industry watchers say the FDA’s approval was notable for establishing autosomal recessive carrier screening tests as class II devices with the intention to exempt such carrier tests from FDA premarket review due to their low to moderate risk. While the Bloom test went through the de novo process due to a lack of applicable predicate device, it may now be used as a predicate for future 510(k) submissions. In addition to demonstrating accuracy of the test, as a first-of-its kind DTC test, 23andMe showed evidence that consumers could understand the test instructions and collect an adequate saliva sample, as well as understand the results. Additionally, the FDA is not limiting who should or should not use these tests.

“This regulatory process helped establish the parameters for consumer genetics. We are pleased with the Agency’s decision and its affirmation that consumers can understand and benefit from direct access to genetic information,” said Kathy Hibbs, 23andMe’s chief regulatory and legal officer, in a statement.

Janssens tells DTET that the future market for DTC testing remains uncertain. Of all genetic tests currently offered as DTC, expanded carrier screenings seem most straightforward. However, they are likely to permeate standard pre-conception care. While a DTC market for carrier testing may emerge, for $99 it will not be feasible for DTC companies to do the pre-counseling typically advised for sequencing-based mutational analysis. The challenge for DTC will be in receiving regulatory approval for DTC assessment of common diseases, an area where genetic testing has so far been challenged to produce highly predictive results.

“There are only a handful of conditions like macular degeneration and Alzheimer’s disease that while not perfectly predictive, enough people may want to know,” says Janssens. “For common diseases DTC genetic testing will likely end because it is simply not predictive enough. Too many other risk factors are involved in causing diseases like asthma and type 2 diabetes to use genetics to predict.”

Vivek Wadhwa, director of research at Center for Entrepreneurship and Research Commercialization at Duke University (Durham, N.C.) believes the cat may already be out of the bag. He tells DTET that while the FDA is trying to manage DTC genetic testing in a “sensible way,” he predicts that genomic interpretation will be an “unstoppable force” and part of the “app economy” in 10 to 20 years, with entrepreneurs (including overseas developers) disrupting the medical industry.

Takeaway: The FDA’s recent approval of 23andMe’s Bloom Syndrome carrier test marks a first step towards future regulation of DTC tests. While additional carrier tests will likely be the next DTC tests approved, the viability of a commercial market for future, comprehensive personal genomics tests remains unclear.


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