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Seeking 510(k) Clearance for Genomic Testing Service, 23andMe Maintains Direct-to-Consumer Ethos


Originally published July 31.

23andMe this week submitted the first of several 510(k) applications it plans to file in order to gain clearance from the US Food and Drug Administration for its Personal Genome Service. However, despite acquiescing to regulatory oversight, the firm hopes to keep marketing its genomic testing service directly to consumers.

"The fundamental philosophy of 23andMe is that people have the right to access their genomic information directly, and nothing has changed in that regard" now that the company is filing for 510(k) clearance, Ashley Gould, 23andMe's VP of corporate development and chief legal officer, told PGx Reporter. "This submission to the FDA is under our existing business model where individuals can directly access their information."

The de novo 510(k) application 23andMe submitted this week represents the first of several the company plans to file this year with the FDA related to its Personal Genome Service. The first submission, made to the Office of In Vitro Diagnostic Device Evaluation and Safety at the FDA's Center for Devices and Radiological Health, included information about seven genetic tests that are included as part of its service.

23andMe said that its genetic tests provide information on the effects of specific gene variants on health conditions based on peer-reviewed, published literature. Each test that 23andMe submits to the FDA for clearance may contain more than one genetic marker or gene, but Gould explained that these tests don't report on the combined effect of multiple genes on a particular condition unless such multi-gene effects are supported by the literature.

Gould added that 23andMe has submitted as part of its 510(k) application analytical validation data for its tests, as well as clinical validation data supported by published literature. By year end, 23andMe plans to file information with the agency on as many as 100 tests.

The company's Personal Genome Service, performed in a CLIA lab by the Laboratory Corporation of America, currently provides so-called "health reports" for 242 diseases and conditions, including genetic associations associated with carrier status, disease risk, drug response, and physical traits.

23andMe declined to disclose which of these diseases or conditions would be among the tests that the company is submitting for FDA clearance. Gould noted that the agency has provided input on which tests needed to be reviewed by the agency and cleared.

"The FDA is now in the process of reviewing our submission, and it will be an iterative process where we go back and forth. They'll have questions and we'll answer them," Gould said. The decision to file the first 510(k) application is the "culmination of an ongoing process" and wasn't triggered by a particular event, she added.

A Rocky Regulatory Road

The company noted in a statement that its interactions with the FDA began before it launched its genotyping service in 2007. In the intervening years, however, the nascent DTC genomic testing services industry raised alarms among state and federal health regulators and became the subject of scrutiny that ultimately caused most DTC firms to modify their business models and require a physician's prescription for their tests, leaving 23andMe as the only US-based firm marketing its service directly to consumers.

The regulatory kerfuffle began in 2008 when health regulators in New York and California asked DTC genomics companies to get the proper state certification and a doctor's prescription in order to market medical tests to state residents. Then, in 2010, when DTC genomics company Pathway Genomics announced plans to market its online testing service via brick-and-mortar pharmacies, the FDA asked several DTC genomics firms why their tests weren't cleared through the agency for marketing as medical devices (PGx Reporter 6/25/2008; 6/16/2010).

After this, the FDA held a public hearing on DTC genomic testing services, where stakeholders from the broader diagnostics industry asked the agency to promulgate regulations that would bring more consistency to the genetic risk information sold by DTC genomics firms. Meanwhile, 23andMe and other supporters of the DTC model maintained that people are capable of understanding genomic data and should have unfettered access to their genomic information, without the "paternalistic" intervention of health regulators and physicians (PGx Reporter 7/21/2010).

A few days after the FDA public meeting, the House Committee on Energy and Commerce held a hearing to discuss findings from an undercover Government Accountability Office investigation that found that the test results provided by DTC genomics companies were "misleading and of little or no practical use to consumers." (PGx Reporter 7/28/2010)

By this time, many industry observers were already predicting the demise of the DTC genomics industry. Some regulatory officials and stakeholders had proposed at the time that certain types of medical testing offered by genomic testing services – such as pharmacogenomic testing – would have to become prescription-only, while other types of testing, such as those for learning about ancestry, could continue to be available directly by consumers.

In fact, the FDA's Medical Devices Advisory Committee's Molecular and Clinical Genetics Panel last year came to a similar conclusion. After discussing the regulatory issues affecting the DTC genomics services industry, the committee members concluded that consumers should get a prescription from a doctor before purchasing genetic tests that could potentially be used to inform healthcare decisions. The panel was more comfortable maintaining direct consumer access to certain nutrigenetic tests, but felt that carrier testing, genetic testing to gauge disease risk, and pharmacogenetic testing should be routed through a physician (PGx Reporter 3/9/2011).

After undergoing significant regulatory scrutiny, by the end of last year, half of the major players in the DTC genomics sector, including Navigenics and Pathway, had abandoned the DTC model and chose to market their tests through physicians. Navigenics was recently acquired by Life Technologies for its CLIA lab, a key piece of Life Tech's plans to develop its own molecular diagnostics products. Having shifted its strategic focus under Life Tech, Navigenics will not be taking on any more customers for its genomic testing service (PGx Reporter 7/18/2012).

Meanwhile, as one of the last remaining firms still holding on to the DTC model, 23andMe has publicly expressed its willingness to meet FDA regulations, but has also insisted that the agency's oversight shouldn't necessarily preclude consumer access to genetic testing. FDA's OIVD ensures the safety and efficacy of complex IVDs that are marketed through healthcare professionals, such as genetic tests that predict whether a person will respond to a particular treatment, though it also oversees tests that are available over-the-counter for consumers to use at home, such as pregnancy tests.

While it's still unknown how OIVD intends to categorize 23andMe's service, it's likely that with regulatory approval, the company may need to change the language it uses to market its tests. "Part of any 510(k) review process includes a review of product 'labeling,'" Gould said in an e-mail. "It is possible that some language may need to be modified based on the FDA labeling review."

And even though 23andMe believes that it will be able to continue providing its customers with unfettered access to its testing services, the FDA of course could still delineate certain portions of its service as prescription only. The FDA does not discuss applications it is reviewing and did not respond to questions from PGx Reporter about 23andMe's 510(k) submission.

For the time being, the company will continue to market the Personal Genome Service as a single, direct-to-consumer offering for $299.

The agency has 90 days to review the 510(k) submission. Gould said 23andMe is already working on its second application.

Seeking Validation

With FDA's blessing to market its service, 23andMe is hoping to deflect the negative light in which the genomic testing service industry has been portrayed by some in the past. "We're hopeful that FDA clearance will provide increased confidence in genetic testing services generally, [result in] increased understanding of what these services have to offer, and [establish] that these are valid tests," Gould said.

"A big motivation for us seeking FDA clearance is to try to pave this pathway toward personalized medicine," she added. "So, we're absolutely proponents of people taking their DNA [information] to their healthcare providers and talking to them about the data, and being more individually empowered and knowledgeable about their own bodies."

The 510(k) filing comes during a time when 23andMe is expanding its business. The firm earlier this month bolstered its potential customer base and strengthened its ability to conduct genome-wide association studies through the acquisition of CureTogether, a website where patients share qualitative information about more than 500 health conditions. The purchase marked 23andMe's first acquisition.

The company is also working with pharmaceutical firms that are using the genomic and phenotypic information it has curated through its more than 150,000 customers to advance understanding of diseases and inform the development of new drugs. For example, 23andMe and Genentech announced last year that they are conducting research to learn about genes that might protect people against Alzheimer's disease (PGx Reporter 6/29/2011).

Gould explained this week that 23andMe's work with drug companies is separate from the Personal Genome Service that it markets to customers. "Our collaborations [with pharma] are not designed to launch companion diagnostics," Gould said, adding that those partnerships are focused on advancing knowledge about the gene-disease or gene-drug relationship in specific populations.