23andMe's app.

In a public letter dated November 22, the Food and Drug Administration has instructed personal genome startup 23andMe to immediately stop selling its testing service until the offering receives de novo 510(k) clearance. Regulatory Focus first spotted the letter.

"[M]onths after you submitted your 510(k)s and more than 5 years after you began marketing, you still had not completed some of the studies and had not even started other studies necessary to support a marketing submission for the PGS [personal genome service]," Alberto Gutierrez, director of in vitro diagnostics and radiological health wrote in the letter, adding that FDA interactions with 23andMe had included "more than 14 face-to-face and teleconference meetings, hundreds of email exchanges, and dozens of written communications."

"It is now nine months later, and you have yet to provide FDA with any new information about these tests," he wrote. "You have not worked with us toward de novo classification, did not provide the additional information we requested necessary to complete review of your 510(k)s, and FDA has not received any communication from 23andMe since May. Instead, we have become aware that you have initiated new marketing campaigns, including television commercials that, together with an increasing list of indications, show that you plan to expand the PGS’s uses and consumer base without obtaining marketing authorization from FDA. Therefore, 23andMe must immediately discontinue marketing the PGS until such time as it receives FDA marketing authorization for the device."

The gene-testing startup, led by CEO Anne Wojcicki, was founded in 2006 and already had 30,000 users when MobiHealthNews first wrote about it in 2009. It's one of the most high-profile companies in the digital health space. For $99, the company will sequence a customer's genome and deliver a report that includes risk levels for diseases and conditions.

"We have received the warning letter from the Food and Drug Administration," the company told MobiHealthNews in an emailed statement. "We recognize that we have not met the FDA's expectations regarding timeline and communication regarding our submission. Our relationship with the FDA is extremely important to us and we are committed to fully engaging with them to address their concerns."

In 2012, the company wrote on its blog that it had just submitted 510(k) documents to seek FDA clearance.

"23andMe has always valued the guidance of the FDA and, in fact, engaged the agency in conversations prior to launching the Personal Genome Service in 2007," 23andMe VP Corporate Development and Chief Legal Officer Ashley Gould said at the time in a statement. "Our ongoing conversations with the FDA in the last year, in particular, resulted in a focused approach that resulted in our ability to compile a comprehensive analysis of 23andMe’s direct-to-consumer testing for FDA consideration."

Gutierrez says in the letter that 23andMe's personal genome service qualifies as a medical device "because it is intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, or is intended to affect the structure or function of the body." In particular, he expresses concern about recently added features that purport to predict a patient's breast cancer risk or response to drugs including warfarin and clopidogrel.

"For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist," he writes. "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 depending on the outcome of the assessment."

Bradley Merrill Thompson, an attorney for Epstein Becker Green and an expert on the FDA's regulation of medical devices, told MobiHealthNews there is an element of public performance to Gutierrez's letter.

"This letter to 23andme is a bit unusual in that the agency goes to great lengths to explain the effort the agency has put into helping this company come into compliance, apparently without success," he wrote in an email. "Apparently FDA is concerned about public opinion, and wanted to take this opportunity to let everyone know just how much the agency has invested in trying to help."

Thompson went on to say that FDA regulation of genetic testing is one of the more complicated sectors of FDA's purview.

"The issue is a very thorny one. FDA regulates disease-related claims, but not wellness related claims," he wrote. "Generally, companies marketing genetic tests directly to consumers have been in a tug-of-war with FDA to figure out exactly where the dividing line is between disease and wellness. Genetic testing companies argue that simply identifying the genetic makeup of a person is general information that allows for healthy living, but FDA seems to be arguing on a case-by-case basis that they are going beyond that into the realm of disease diagnosis and treatment."

The FDA has given 23andMe 15 days from the 22nd to respond to the letter or address the concerns listed in it. After that, Gutierrez warns, the FDA could take actions including but not limited to seizure, injunction, and civil money penalties.