In 23andMe's tussle with the FDA, 'diagnostic' is a contentious word

If nothing else, direct-to-consumer DNA testing operation 23andMe has never used the words "diagnostic test" to describe its Personal Genome Service. The California company refers to the PGS on its website as a valuable tool to uncover details about yourself, from genetic health risks to whether your body metabolizes caffeine quickly. Executives take pains, however, to note that the test lacks FDA clearance and is "not for diagnostic use."

Now, rather strongly, the FDA has stepped in to assert otherwise. In a Nov. 22 warning letter, regulators accuse 23andMe of marketing its PGS as a diagnostic device without proper clearances and demand that the company stop all marketing until it obtains the necessary regulatory approvals. What's even more provocative is that regulators accuse 23andMe of improperly expanding uses for the test to assess "254 diseases and conditions," everything from diabetes to coronary heart disease, breast cancer and potential response to various drug treatments. The FDA said those uses make the PGS a de facto medical device, and that it must obtain premarket approval or de novo classification as a result. Otherwise, regulators warned, patients could be at risk.

"The risk of serious injury or death is known to be high when patients are either non-compliant or not properly dosed," the FDA said in its warning letter addressed to CEO Anne Wojcicki. "Combined with the risk that a direct-to-consumer test result may be used by a patient to self-manage, serious concerns are raised if test results are not adequately understood by patients or if incorrect test results are reported."

The company issued a statement in response to the warning letter that does little more than acknowledge its receipt and briefly express the desire to work with the FDA toward a positive outcome.

"We recognize that we have not met the FDA's expectations regarding the timeline and communication regarding our submission," the statement reads. "Our relationship with the FDA is important to use, and we are committed to fully engaging with them to address their concerns."

Wojcicki addressed the matter further in a blog posting on her company's website.

"This is new territory for both 23andMe and the FDA," she wrote. "This makes the regulatory process with the FDA important because the work we are doing with the agency will help lay the groundwork for what other companies in this new industry do in the future. It will also provide important reassurance to the public that the process and science behind the service meet the rigorous standards required by those entrusted with the public's safety."

The FDA's accusations are rather lengthy and indicate a level of impatience that regulators don't always display in a warning letter. It also hits the gray area in which consumer-oriented tests reside. Gene tests going much beyond researching a family tree fall in some touchy territory, and the FDA wants to be sure they're not offering diagnostic advice without approvals in place.

Regulators note in the letter that they've worked with 23andMe for 5 years to help obtain proper clearance and evaluate the PGS's intended uses. They said they've offered suggestions about how to modify labeling and have pointed the company toward the less burdensome de novo approval rather than a PMA. For more than four years, the FDA said, it has engaged in "more than 14 face-to-face and teleconference meetings, hundreds of email exchanges and dozens of written communications" with executives at the company, all to no avail.

"Even after these many interactions ... we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses, which have expanded from the uses that the firm identified in its submissions," the FDA said. Regulators go on to rip the company for allegedly failing to finish necessary studies to back a marketing submission for PGS months after submitting its 510(k)s for several disputed tests and 5 years after launching marketing efforts.

Regulators also criticized 23andMe for avoiding communication since May and for rolling out new online and television ads "that, together with an increasing list of indications, show you plan to expand the PGS's uses and consumer base without obtaining marketing authorization from the FDA."

The test is simple enough--customers order a DNA kit from the company's online store, take a sample of their saliva and then send it back to the company in prepaid packaging. At that point, 23andMe's CLIA-certified labs sequence the samples and produce the requested data, covering areas including gene mutations, health risks and drug responses.

23andMe may not call its PGS product a diagnostic device, but the FDA said the company's marketing, referring to the test as a "first step in prevention," indicates otherwise. Diagnostics and consumer testing companies will likely be watching the dispute and its resolution pretty closely--an outcome that could shape the over-the-counter testing business well beyond anything 23andMe is dealing with now.

- here's the FDA warning letter
- and the CEO's blog posting
- check out FierceMedicalDevices' take

Editor's note: This story has been updated to include a quote from CEO Anne Wojcicki's blog posting.

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