Monday morning, federal regulators issued an enforcement action against 23andMe, a popular Silicon Valley-based genetic testing startup.

Community forums and news sites across the Web exploded with debate, with most people rallying to 23andMe’s defense. The company’s ample support-base claims that the Food and Drug Administration is over-regulating and is stifling innovation.

However, the majority of geneticists and medical professionals I’ve spoke with have sided with the Food and Drug Administration, arguing that many patients require genetic counseling after receiving DNA test results that point to a high risk of cancer and other life-threatening conditions.

One San Francisco-based neurologist, who asked to remain anonymous, told me that some of her healthiest patients — all 23andMe customers — have begun demanding unnecessary and expensive MRI tests for Alzheimer’s disease. “23andMe’s test is creating chaos with people in their 20s and 30s,” she said. “They generate havoc and walk away.”

Indeed, in the event that this divisive case reaches the California courts, it may have far-reaching implications for the genetics industry and beyond.

23andMe: How it works

Google-backed 23andMe is among the first to market and sell an affordable DNA test directly to consumers rather than to care providers. The company is backed by Google and run by Anne Wojcicki, the soon to be ex-wife of the Google cofounder Sergey Brin.

On its website, 23andMe claims that it is “saving lives” by delivering clinical insights, such as your risk of developing breast cancer or Parkinson’s Disease. The company says in its marketing materials that it will provide “health reports on 254 diseases and conditions.”

23andMe also sends you information about your ancestral history and frequently describes this process in ads and blog posts as “empowering” and “fun.”

That’s all well and good, but the FDA is contending that 23andMe’s method of amassing DNA — its Saliva Collection Kit and Personal Genome Service (PGS) — is a class III medical device under the Federal Food, Drug, and Cosmetic Act. The device has not obtained proper regulatory clearance and is therefore misbranded under the law.

In its letter, originally issued on Friday, the FDA explains that the kit falls under the medical device category, as consumers could act on the results as a diagnosis — not just a prediction of risk. Regulators are concerned that a false positive from a 23andMe test could result in unnecessary surgery and that false negatives could lead to patients being less aggressive about screening for various health conditions.

The agency may have decided to take public action now, given that 23andme has begun testing various mutations of genes that indicate a woman might have a high risk of getting breast or ovarian cancer. A false positive on that test could cause a woman to undergo a needless mastectomy. And a growing number of women are requesting this test after hearing the news about Angelina Jolie’s surgery.

23andMe has 15 days to provide specific actions to address the issues raised by the FDA. At the time of this report, kits were still for sale on the company’s website.

Taking a stand

23andMe may choose to comply with the FDA, or it may argue that its PGS is not a medical device at all.

Lauren Fifield, a senior health policy expert predicts that the company will take a stand. “My gut tells me that the company isn’t challenging process but is instead challenging the very regulatory definition of what it is to be a device,” said Fifield, who works closely with startups, the FDA, and other federal health agencies in her role at Practice Fusion.

“What remains to be seen is whether the company and tech industry can convince the government that safety can be increased, or at least balanced, by innovation rather than set at odds,” she added.

23andMe is well funded, with an in-house legal counsel and policy team. The company has not responded to a request for an interview from any news publication, presumably as it convenes to determine a course of action.

In response to requests for information, 23andMe issued the following statement.

We have received the warning letter from the Food and Drug Administration. 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.

Note the use of the term “expectations” rather than rules or requirements, which suggests that 23andMe is not convinced by the FDA’s arguments.

The FDA, meanwhile, made clear in dealings with the media that it is taking a hard line. This letter was not delivered out of the blue. The agency says 23andMe has dragged its feet despite “14 face-to-face or teleconference meetings, hundreds of email exchanges, and dozens of written communications” since 2009.

“Companies that receive warning letters have the opportunity to address the violations,” explained Erica Jefferson, a spokesperson with the FDA, in an interview with VentureBeat. “If the violations are not addressed to the satisfaction of the FDA, further actions may be warranted, including seizure or civil money penalties.”

It’s all about the messaging

This case is still developing, but one crucial lesson for health entrepreneurs is that the FDA pays a great deal of attention to messaging.

This rule of thumb doesn’t just apply to genetic testing. The FDA recently clamped down on a mobile medical app called uChek, pointing out that the company’s marketing was misleading. The agency is more inclined to take action if an app promises to deliver an alternative to a doctor’s visit.

To the agency’s credit, developers have found it far easier to avoid federal oversight. For reference, the FDA recently released its final guidance on how it intends to regulate mobile medical apps.

In this particular case, the FDA may have taken issue with 23andMe’s aggressive marketing tactics. The company recently hired a former Gilt Groupe exec as its president; since then, it has been advertising its test to consumers on social media and various television networks.

Consumers may not understand that the test is serious — not just a bit of fun — and that the results can indicate incurable or life threatening disease.

“When I started Navigenics (a 23andMe rival that was acquired by Life Technologies for an unspecified sum), we spent an enormous amount of time communicating shades of grey — and we did all this alongside regular meetings with the FDA,” said human geneticist and entrepreneur Dietrich Stephan in an interview.

“Engaging the FDA as a partner to bring the most robust and safe new type of test to market is “diagnostics 101,” he added.

Stephan told me about a family friend who ordered a 23andMe test on a whim. His mother felt compelled to take the test, after discovering that her son carried a genetic variant called BRCA, which indicates a high risk of breast and ovarian cancer. After the mother received a positive result, she ordered a double mastectomy despite protestations from friends and family.

Stephan is the founder of a former competitor, so this story should be taken with a pinch of salt. However, 23andMe cites an anonymous customer in its own blog who opted for a double mastectomy, after receiving the results of the test (although this particular patient *Jill appears to have also consulted a genetic counselor, and opted for another test from a genetic testing company). It remains unclear whether this patient also consulted with numerous medical professionals.

These types of cases are concerning for the FDA, particularly if the results themselves are inaccurate. “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,” the letter warns.

Indeed, physicians I interviewed stressed that patients should not order a DNA test without regard to the consequences. Dr. Malcolm Thaler, a primary care provider at One Medical, said he would prefer to have a conversation with a patient before they order a test “to put the results in context” and explain the numbers in detail.

In the short term, we may seen 23andMe under pressure to more readily link consumers with genetic counselors and adapt its marketing campaigns to reflect the life-changing and potentially very serious nature of the results.

Is this a landmark case?

The crux of the issue is that the FDA is still determining how it will regulate innovative health applications from Silicon Valley and other technology hubs. Health policy experts, like Practice Fusion‘s Fifield, believe this has the potential to be a “landmark case” if it goes to court.

Already, the public warning letter will serve as an important example and model for other startups.

“I’ll be watching how this case plays out,” said Heather Heine, an M.D. and founder of an early stage biotech company called Talking20. Heine doesn’t have such immense resources at her disposal as 23andMe to hire expensive consultants.

So Heine will keep a close eye on how 23andMe responds as she brings her company’s low-cost biomarker testing kit to market. “23andMe has the resources to push this envelope,” she said. “These resources allow them to be front-runners.”

Want to learn more about this case? In this ABC7 news report, I discuss the implications with producer Heather Ishimaru.

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