The California-based genetic testing firm 23andMe has taken another step toward remaking itself as a laboratory company, obtaining one of the first federal approvals for a direct-to-consumer genetic test. 23andMe announced last week it has obtained approval from the U.S. Food and Drug Administration to market a test aimed at identifying carriers of Bloom Syndrome, a rare genetic condition. The announcement was a departure from the company’s prior history with the FDA, which had intervened over its marketing of genetic sequencing data directly to consumers. In late 2013, the agency had ordered the company to stop offering interpretations of its genetic tests, a move 23andMe initially resisted but with which it eventually complied, all but stopping its business model in its tracks. As an alternative, it offered only general ancestral information to those customers willing to remit their DNA swabs and $99. But the company began remaking itself last year, garnering a seven-figure grant from the National Institutes for Health to analyze genetic data more in depth. Earlier this year it also published research indicating a genetic link to motion sickness. And last June, it submitted the Bloom Syndrome assay to the FDA for marketing approval. The FDA granted the […]
The California-based genetic testing firm 23andMe has taken another step toward remaking itself as a laboratory company, obtaining one of the first federal approvals for a direct-to-consumer genetic test.
23andMe announced last week it has obtained approval from the U.S. Food and Drug Administration to market a test aimed at identifying carriers of Bloom Syndrome, a rare genetic condition.
The announcement was a departure from the company’s prior history with the FDA, which had intervened over its marketing of genetic sequencing data directly to consumers.
In late 2013, the agency had ordered the company to stop offering interpretations of its genetic tests, a move 23andMe initially resisted but with which it eventually complied, all but stopping its business model in its tracks. As an alternative, it offered only general ancestral information to those customers willing to remit their DNA swabs and $99.
But the company began remaking itself last year, garnering a seven-figure grant from the National Institutes for Health to analyze genetic data more in depth. Earlier this year it also published research indicating a genetic link to motion sickness. And last June, it submitted the Bloom Syndrome assay to the FDA for marketing approval.
The FDA granted the request last week. The approval was granted after the agency classified the test as de novo, a fast-track process that means the test was considered low to medium risk and there are no other equivalents on the market. The FDA also said it would classify future genetic carrier screening tests as low to medium risk, meaning most would be exempt from a pre-market review.
“This is a major milestone for our company and for consumers who want direct access to genetic testing,” said Anne Wojcicki, 23andMe’s CEO and co-founder, in the company’s press release announcing the approval. “We have more work to do, but we remain committed to pursuing a regulatory path for additional tests and bringing the health reports back to the US market. This important first step would not have been possible without the hard work and guidance of the FDA.”
Bloom Syndrome is a rare genetic disorder characterized by having short stature, sensitivity to sunlight, and a higher risk for contracting multiple forms of cancer early in life. It is diagnosed in one in about 50,000 people, primarily those of Eastern European Jewish heritage. If both parents carry the gene for Bloom Syndrome, their child has a 25 percent chance of being born with the disorder.
23andMe’s test is able to determine if a subject is a carrier of Bloom Syndrome with a straightforward saliva test. The company ran more than 3,000 validation assays prior to receiving FDA approval. The test was 100 percent accurate when compared against the standard testing method of using human tissue.
“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 the company’s announcement.
Despite the victory and the fact that 23andMe now has an assay it can market directly to consumers, the test will not be released anytime in the immediate future. The company said in a statement that it will not market the test “until it completes the regulatory process for additional test reports and can offer a more comprehensive product offering.”
Takeaway: 23andMe has taken the first steps of remaking its relationship with the Food and Drug Administration..
