February 22, 2015

FDA Issues Marketing Approval for 23andMe Direct to Consumer Bloom Syndrome Genetic Test

Federal regulation of the expanding genetic testing marketplace is beginning to take shape. The FDA has issued a formal approval for the marketing of a direct-to-consumer (DTC) genetic test to 23andMe, a leading personal genomics company based in Mountain View, CA. This is the first such decision by the FDA. As discussed here earlier, the FDA has been slowly enlarging its management of in vitro diagnostics to include most genetic tests, which are offered as laboratory-derived tests (LDT). 23andMe has tussled with the FDA over the last several years regarding whether and how its portfolio of DTC tests would be regulated by the FDA. In 2013, the FDA ordered the company to cease its marketing of over 200 unregulated health-related genetic tests through its Personal Genome Service. Finally, 23andMe signed on to FDA involvement by submitting a formal 510(k) application for the Bloom Syndrome Carrier Status test in 2014 (Bloom syndrome is a serious autosomal recessive genetic disorder caused by mutations in the BLM gene). For background on the submission: 
Section 510(k) of the Food, Drug and Cosmetic Act requires device manufacturers who must register, to notify FDA of their intent to market a medical device at least 90 days in advance. This is known as Premarket Notification - also called PMN or 510(k). 
The 23andMe submission was then converted to a de novo application, signalling the lack of a predicate test for comparison (but now potentially serving as a benchmark for future evaluations). Now, the FDA has announced its approval for 23andMe to market its DTC Bloom syndrome test, taking notice of any potential risk while also identifying the benefit of this type of test: 
FDA believes that in many circumstances it is not necessary for consumers to go through a licensed practitioner to have direct access to their personal genetic information. Today’s authorization and accompanying classification, along with FDA’s intent to exempt these devices from FDA premarket review, supports innovation and will ultimately benefit consumers. 
In a sign that an overarching regulatory scheme is slowly emerging, the FDA further announced a classification of this subset of genetic tests:
Along with this authorization, the FDA is also classifying carrier screening tests as class II. In addition, the FDA intends to exempt these devices from FDA premarket review. The agency plans to issue a notice that announces the intent to exempt these tests and that provides a 30-day period for public comment. This action creates the least burdensome regulatory path for autosomal recessive carrier screening tests with similar uses to enter the market. 
It’s important to note that the Bloom syndrome test is not a test that provides either diagnostic or therapeutic information on which a patient may be making decisions regarding medical care; it is a report on Bloom syndrome carrier status and it will be used in reproductive decisions. The FDA’s concern with 23andMe’s (or other companies) offerings of health-related genetic information was largely focused on the likelihood that consumers would receive their genetic information accompanied by the companies’ assessment of risk or susceptibility, leading them to structure medical decisions (surgery, medications) on shaky or dubious representations. Because the approved test can be sold directly to consumers over the counter, the FDA did attach requirements for 23andMe to make consumers aware of genetic counseling options.

In parallel, the FDA is also building out oversight of foundational technologies that underlie genetic testing and analysis, most directly in its efforts to develop a regulatory program for next-generation sequencing (NGS) (see here). The FDA held its first public hearing on NGS oversight last week.

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