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FDA's Gutierrez Provides Additional Clarity Regarding Oversight of DTC Genomics Firms

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This story has been updated to include an announcement from CVS Caremark that it will join Walgreens in holding off on offering Pathway's saliva sample collection kits in its retail stores until regulatory issues are resolved.

Originally published May 14. Updated May 18.

By Turna Ray

Without issuing formal guidelines regulating the direct-to-consumer genomics industry, the US Food and Drug Administration has drawn a de facto boundary limiting the industry's marketing practices.

In issuing a letter dated May 10 to Pathway Genomics, the FDA informed the company that its Genetic Health Report home-use saliva collection kit "appears to meet the definition of a device as set out in section 201(h) of the federal Food Drug and Cosmetic Act."

The letter caused pharmacy chain Walgreens to delay a plan announced earlier in the week to sell the Pathway spit kit in thousands of retail stores until there is "further clarity on this matter," Walgreen said in a statement.

FDA has sent letters to other DTC genomics firms asking them to discuss with the agency the medical claims for their online services. However, Pathway's decision to expand its business from the web to Walgreens stirred the agency to make the most definitive statements to date about regulating the nascent DTC genomics industry.

Alberto Gutierrez, director of the FDA's Office of In Vitro Diagnostic Device Evaluation and Safety, told Pharmacogenomics Reporter this week that before Pathway expressed plans to market its test through Walgreens, FDA had began to monitor these types of tests "carefully" and had already decided that the risk they posed "merited spending scarce resources."

But Pathway's announcement about the deal with Walgreens spurred the agency to take a more aggressive stance.

"The fact is that Pathway's bold move to make themselves noticed achieved its end and brought them to our attention," Gutierrez said.

Similar public comments from FDA officials over the past week have caused the industry to ponder the difference between marketing a genetic test online and in brick-and-mortar stores, since both models peddle tests directly to consumers without their personal physicians' involvement (PGx Reporter 5/12/10).

FDA, whose oversight requires a delicate balancing act weighing the risks and benefits of healthcare products, has always said its regulatory actions are risk-based.

"FDA understands that it is the way the test is offered and not just the technology of the test that determines the risk; it's the way the test is used and its intended use," Alan Mertz, president of the American Clinical Laboratory Association, told PGx Reporter this week.

After Pathway announced its plans to market its service at Walgreens, ACLA issued a statement urging consumers to seek guidance from their doctors if they plan to use a direct-to-consumer genetic test to learn of their predisposition to diseases and pharmacogenomic drug responses.

Although genetic test developers currently have a two-pronged pathway — clearance through CMS or through the FDA — the FDA has exercised enforcement discretion over the majority of LDTs. The FDA has indicated that certain higher-risk LDTs, called in vitro diagnostic multivariate index assays, will be subject to its oversight, but the agency has yet to finalize guidelines on the topic.

An FDA spokesperson said earlier this week that in intending to sell its test through retail stores, Pathway "moved outside of the currently sanctioned boundaries for lab-developed tests" (PGx Reporter 05/12/10). In the case of DTC genomics firms, FDA oversight seems to be warranted by their marketing practices as much as by the technology platform and the results of their tests.

According to Gutierrez, even if Pathway forgoes marketing its test through Walgreens, it may still have to get it cleared by the agency on account of the fact that it is marketing the test directly to consumers. With regard to whether Pathway's test or other tests like it would fall under FDA's definition of an IVDMIA, Gutierrez said that the agency does not have enough information to make that determination at this time.

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FDA has been mulling draft guidelines for IVDMIAs for several years. According to Gutierrez, who was appointed as the head of OIVD a year ago in an agency-wide reorganization, the agency has had to go back to "square one" when it comes to its regulatory guidelines for IVDMIAs (PGx Reporter 08/12/09).

Another possible method of tracking claims made by DTC genomics firms — particularly if they perform the genotyping analysis in labs that have been cleared through CMS' Clinical Laboratory Improvement Amendments — may be through a voluntary registry the National Institutes of Health is setting up. As there is no centralized repository for tracking claims made by laboratory-test developers, the NIH's registry is a step toward creating such a resource.

The NIH's Genetic Testing Registry, slated for launch in 2011, will list tests from companies who wish to make information about the validity and usefulness of their products publicly available. The NIH hasn't indicated what incentives it would provide to sponsors for participating, and it is currently unclear if DTC genomics firms will participate in the effort (PGx Reporter 03/24/10).

"Keeping track of tests that laboratories claim to be laboratory-developed tests is a major problem that has been previously identified not only by the FDA but the testing community at large," Gutierrez said, adding that NIH's voluntary registry "has the potential of helping in this regard." If FDA determines that Pathway has to get clearance or approval of its Genetic Health Report kit, then upon that product's approval, it will be listed in FDA's databases.

Spit Kit as Device

According to FDA's letter to Pathway, the agency believes the company's saliva sample kit is a device.

Under the FD&C Act, Section 201(h) defines the term "device" as "an instrument, apparatus, implement, machine, contrivance, implant, [or] in vitro reagent … intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease, in man or other animals." Additionally, a related component or accessory to a device used to make medical decisions, in this case a saliva sample collection kit, would also be considered a device by the agency's definition.

The letter, however, puts the onus on Pathway to justify why the company has not sought clearance or approval for the Genetic Health Report, which is a service that extracts customers' DNA data from their saliva submitted through the sample collection kit, and analyzes their predisposition for 70 diseases and conditions, drug responses, and pre-pregnancy carrier status.

"With this powerful knowledge and our easy-to-understand guidance, you can modify your health regime so that you may live a healthier, longer life," Pathway's website states.

Since the FDA has made it clear that it is keeping an eye on all DTC genomics firms, other saliva collection kits marketed by DTC genomics firms online could also be regulated as devices.

The FDA does not publicly discuss its ongoing regulatory discussions with industry. "All the companies that we sent a letter to came to discuss their tests with the agency," Gutierrez said, but did not elaborate on the status of those discussions.

The big three DTC genomics firms — 23andMe, Navigenics, and Decode — have indicated they would welcome more federal guidance for the DTC genomics industry. Particularly after New York and California decided in 2008 to regulate several DTC firms for not having state laboratory licenses and for operating without the involvement of a physician, industry leaders noted that they prefer to have more definitive guidance from federal health regulators than have to deal with authorities on a state-by-state basis.

Acceptable Retail Model?

The outcome of the Pathway/Walgreens agreement is being closely watched by other retail pharmacy service providers eyeing the personalized medicine space.

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The biggest pharmacy services provider in the US, CVS Caremark, earlier this year took a majority stake in the genetic benefits testing management company Generation Health, with the intent of launching personalized medicine programs for its pharmacy benefits management customers (PGx Reporter 12/23/09). Noting that CVS Caremark is strictly providing PGx testing to its PBM customers in the medical setting, Rick Schatzberg, CEO of Generation Health, said that offering saliva sample kits at retail stores with no involvement of genetic counselors or doctors at the point of sale is a model that makes him "uncomfortable."

As it turns out, CVS Caremark also had a deal with Pathway Genomics ─ similar to Pathway's deal with Walgreens ─ to sell saliva sample kits in retail stores starting in August. But based on Pathway's experience at Walgreens, CVS' plans are now on hold pending regulatory clarity on DTC genomic tests.

"We are continuing to learn more about these products and how they can and should be used," a CVS Caremark spokesperson said in a statement. "We will follow the FDA discussions closely and make a final decision on whether to carry this product after their questions about the test kits are resolved."

Meanwhile, Schatzberg is in the process of setting up a PGx pilot program, slated for launch early next year, for CVS Caremark's PBM, which will allow them to offer pharmacogenomic testing for 12 drugs. While Schatzberg said he could not speak for CVS Caremark's retail division, which includes more than 7,000 CVS and Longs Drugs stores, he noted that a better way for retail pharmacies to offer in-store genetic testing in the future may be through an in-store service that involves genetic counselors and doctors.

It seems that as early as 2006, Laboratory Corporation of America had plans for such a genetic testing service pilot in 20 New York City Duane Read pharmacies. At the time, a LabCorp spokesperson said that the company was planning to set up "patient service centers" at Duane Read pharmacies that would collect patient samples for nearly the full range of the company's diagnostics, including molecular diagnostics such as CYP450 testing. The status of this effort is currently unclear.

Would FDA have objected if Pathway decided to sell the same sample collection kit at Walgreens, but as part of a service that included the presence of a genetic counselor and trained medical staff or pharmacists at the retail store?

"Not as long as Pathway had a legitimate laboratory-developed test," Gutierrez said, adding that the agency would require more information to make a definitive determination on that point.

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