By Rachel A. Hardy, MA, RAC

The company 23andMe has recently found favor with the U.S. Food and Drug Administration. On 19 Feb 2015, the agency announced it had issued marketing authorization for the company’s Bloom Syndrome carrier test, which determines whether healthy adults carry a gene variant that could cause a serious disorder in their offspring (FDA 2015a).

This marketing authorization is significant for two reasons. It marked the first time FDA had authorized a direct-to-consumer genetic test. In addition, the authorization holder, 23andMe, received an FDA warning letter in 2013 for failing to obtain marketing clearance or approval for the 23andMe Saliva Collection Kit and Personal Genome Service (PGS) (FDA 2015a, FDA 2013). As a result, 23andMe suspended its genetic testing services except for purposes of determining ancestry (Hardy 2014).

The FDA’s issuance of the warning letter to 23andMe prompted a strong reaction from Senator Lamar Alexander, who wrote that the agency does “not trust individuals with test results” in a letter to then-FDA Commissioner Margaret Hamburg. Yet the FDA’s recent decision shows the senator’s opinion to be inaccurate (Alexander 2014).

“The 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,” said FDA’s Alberto Gutierrez, director of the Office of In Vitro Diagnostics and Radiological Health in the Center for Devices and Radiological Health, in the agency press release (FDA 2015a).

FDA classified the Bloom Syndrome test as Class II, which is as a moderate risk device. To get this result, 23andMe would have used the de novo classification option for medical devices. The Bloom Syndrome test had no substantial equivalent among FDA-approved devices, so 23andMe could not say to FDA: This test has the same amount of risk as this other, similar test that you authorized already. Therefore, the test was not eligible for a 510(k) filing. The de novo option allows for a new device—automatically classified as high risk known as Class III—to be considered as low or moderate risk. As an FDA authorized Class II device, the Bloom Syndrome test can be used as the predicate device for future 510(k) filings. (FDA 2015a, FDA 2015b, FDA 2014).

23andMe provided FDA with this evidence for Class II classification (FDA 2015a):

  • Two studies demonstrating that the test accurately detects Bloom syndrome carrier status,
  • a usability study demonstrating that consumers new to the 23andMe saliva collection device could successfully follow the instructions for collecting an adequate saliva sample, and
  • a user study demonstrating that people of various ages, genders, races, and education levels could follow and understand the test instructions and results.

Note that the Bloom Syndrome carrier test, which aids healthy adults in their decisions regarding having children, is not the type of test for which FDA raised alarms in its 2013 warning letter, writing “assessments for drug responses carry the risks that patients relying on such tests may begin to self-manage their treatments through dose changes or even abandon certain therapies” (FDA 2013). A test for helping to manage a chronic condition is potentially high risk, but a carrier test meant to detect a recessive trait is moderate risk, concludes the FDA (FDA 2015a).

In the same announcement, the FDA noted how it plans to treat other such carrier screening tests for autosomal recessive traits: exempt from premarket review and with a 30-day public comment period. FDA has yet to issue a separate notice about carrier screening tests regulation (FDA 2015a).

This marketing authorization marks a new era for 23andMe. Company co-founder Anne Wojcicki said it expects to make the Bloom Syndrome test available "some time this year," and that it has plans for 40 more of this type of screening test, according to a Reuters article (Clarke 2015). The 23andMe’s health page explains “we are committed to returning health information to our US customers … once more tests have been through this process and we have a more comprehensive product offering” (23andMe 2015).

Rachel A. Hardy, MA, RAC, is a data management technician in oncology at Duke University and a member of NCRAF. She has more than seven years of experience applying cGCP, including clinical operations, in a clinic, and medical writing. She can be reached at [email protected]


Michael J. Benecky, Senior Director Regulatory Affairs of GlaxoSmithKline, for mentioning the 23andMe marketing authorization during his presentation to NCRAF: “Proposed FDA Framework for the Regulation of Laboratory-Developed Tests” on March 19, 2015.


US Food and Drug Administration. FDA permits marketing of first direct-to-consumer genetic carrier test for Bloom syndrome. 19 Feb 2015. Accessed 1 April 2015.

US Food and Drug Administration. Warning Letter. To Ann Wojcicki, CEO. 23andMe, Inc. 22 Nov 2013. Accessed 1 April 2015.

Hardy R. CLIA-Regulated Laboratories vs. 23andMe - an Apples-to-Oranges Comparison. NC Regulatory Affairs Forum Blog. 4 June 2014. Accessed 1 April 2015.

Alexander L. Alexander Calls for Administration to Clarify Position on Patient Access to Personal Health Information. 20 Feb 2014. Accessed 1 April 2015.

US Food and Drug Administration. Overview of Medical Device Classification and Reclassification. 3 Jun 2014. Accessed 1 April 2015.

US Food and Drug Administration.  Evaluation of Automatic Class III Designation (De Novo) Summaries. 26 Feb 2015. Accessed 1 April 2015.

Clarke T. U.S. FDA approves 23andMe's genetic screening test for rare disorder. Reuters. 19 Feb 2015. Accessed 31 March 2015.

23andMe Health Page. Accessed 25 March 2015.

Copyright 2015 by Rachel A. Hardy