The Conversation Continues: Recap from Day Two of FDA’s Regulatory Meeting

The second and final day of the FDA’s “Public Meeting on Oversight of Laboratory Developed Tests” (LDTs) brought forth many of the same comments and themes as the first. The primary difference was that, whereas the first day began with some comments from the Agency that provided a few hints about what the FDA has in store for LDTs, the second day was notable for the FDA’s near-total silence (although key officials were present and listening). Indeed, perhaps the loudest applause of the day was reserved for Sharon Terry of Genetic Alliance, who remarked that while she was glad the FDA had invited so many comments, “it would be nice [if the Agency] would say something back.”

Something Old, Something New. In addition to a reiteration of yesterday’s themes – especially the need for additional data demonstrating how LDTs are used and what harms, if any, they have inflicted on consumers and patients – a few new areas of discussion emerged over the course of the day. Those included:

On Behalf of Our Members. Industry and professional organizations, including the College of American Pathologists (CAP), Association for Molecular Pathology (AMP), American Clinical Laboratory Association (ACLA), AdvaMed and others, were well represented in both the comment and panel sessions throughout the day. While the groups did not see eye-to-eye on every issue, they did share several common concerns. Chief among these was the need for the FDA to involve non-governmental third parties with the design of any LDT regulations and, importantly, with the subsequent communication to and implementation by laboratories and professionals. (No surprise that there were numerous individuals and organizations eager to volunteer for this task.)

Dr. Gail Vance of CAP captured the sentiment when she pointed out that  “FDA-speak is foreign to laboratories. We speak CLIA. We are aligned with CLIA. We don’t have a clue about the FDA.” Speakers throughout the day, especially in the closing session on Education and Outreach, echoed Vance’s concern and stressed the critical role that third parties must play in ensuring that FDA’s regulatory intent, whatever it may be, is translated into laboratory practice.

A Question of Access. The other key difference from Day One was Day Two’s focus on the role of direct-to-consumer (DTC) genetic testing, which occupied a majority of the afternoon.

The DTC discussion began with ten public commentators presenting to the FDA their perspectives on DTC genetic testing and the steps FDA should take (or not take) to regulate the industry. Several commentators, including Gaia Bernstein of Seton Hall University School of Law and Jeremy Gruber of the Council for Responsible Genetics, expressed their strongly held belief that DTC testing without the involvement of a medical professional places individuals at serious risk of adverse outcomes ranging from privacy violations to misguided and dangerous medical decisions. Bernstein took the familiar physician-as-gatekeeper argument one step further, expressing her belief that individuals should be required to engage a medical professional not only to access and interpret genetic information, but even to decide whether and what genetic information was safe to request in the first instance.

DTC genetic testing also had its advocates, including 23andMe co-founder Anne Wojcicki (transcript and slides) and Katherine Borges, Director of the International Society of Genetic Genealogy (ISOGG), who delivered one of the most impassioned arguments for prioritizing individual access over FDA regulation. (The complete text of Borges’ comments is available via The Huffington Post.) Borges sounded a familiar refrain in arguing that the FDA should not restrict consumer access to genetic information “without credible, compelling scientific data to support” such regulation.

The panel discussion following the public comments was a more moderate affair, with Dr. Ann Willey of New York State’s Department of Health taking pains to explain the terminological distinctions between direct-to-consumer marketing in the therapeutic context (where drugs are marketed to consumers but a doctor must still order the drug), direct access testing (pdf) in the medical device/diagnostic context (where an individual may initiate a test, although a healthcare provider is still typically involved in the receipt and interpretation of results) and direct-to-consumer genetic testing as practiced by companies such as 23andMe (where DTC services are marketed directly to consumers, ordered directly by consumers and the results delivered directly to consumers).

As the panel moderator, Dr. Muin Khoury of the Centers for Disease Control and Prevention (CDC), urged the panelists to examine the crucial differences between DTC tests and the broader category of LDTs, the distinctions between DTC advertising, ordering and delivery came up several times. While the full DTC model was not necessarily without its advocates, including Dr. Vance Vanier of Navigenics (a personal genomics start-up that once offered results directly to consumers but has since abandoned that business model), the panel’s lack of a represenative from a company offering full DTC genetic testing certainly seemed an odd choice.

DTC, Risk and the Media. There was one other area of DTC discussion where comments made at the meeting managed only to scratch the surface of an important and ongoing discussion. In addition to arguing for maintaining broad consumer access to genetic data, Katherine Borges also took the media – and particularly journalist Rob Stein of The Washington Post – to task in her public comments for distorting and sensationalizing the risks posed by DTC genetic testing. Borges argued that “sensationalistic media articles that relate anecdotal cases should not be used as a basis to regulate.”

As background, when Pathway Genomics first announced its intent to sell saliva collection kits for its DTC genetic testing service in certain Walgreens stores, Stein and The Washington Post were quick to question the decision, expressing concern that such a move could “open a Pandora’s box of confusion, privacy violations, genetic discrimination and other issues.” It was in that same article that OIVD Director Dr. Alberto Gutierrez first indicated that the FDA had some concerns about Pathway’s test. Concerns that quickly led to Pathway and Walgreens abandoning their commercial partnership, first Congress and then the FDA sending letters to several prominent DTC companies and, ultimately, the FDA’s decision to seek to regulate all LDTs.

This past weekend, as a preview to the FDA’s public meeting, Stein tackled the topic of genetic testing regulation, and examined once again the risks associated with DTC genetic testing. Although Stein’s piece is well-balanced on the topic of regulating genetic tests (both LDTs and DTC genetic tests), several commentators, including Borges and Daniel MacArthur of Genetic Future/Genomes Unzipped, have criticized Stein for misrepresenting or exaggerating negative stories about personal genomics. Stein begins his most recent article by recounting a sample swap that impacted fewer than 100 23andMe customers in early June. At the time I wrote that the sample swap, and in particular 23andMe’s response, was actually evidence in favor of personal genomics. Stein disagrees, but as MacArthur writes (and supports with considerable evidence), the “anecdotes [used by Stein] appear to have been very selectively presented.” [Update: as MacArthur’s post makes plain, much of the “evidence” that Stein distorted the 23andMe sample swap comes courtesy of 23andMe customer, genetic genealogist and blogger CeCe Moore, who offers a nearly line-by-line debunking of Stein’s portrayal of the event.]

What’s Next. The risks and benefits of DTC genetic testing will receive another airing first thing tomorrow morning, when the House Committee on Energy and Commerce will hold a subcommittee hearing on “Direct-to-Consumer Genetic Testing and the Consequences to the Public Health.” (Details of the hearing have not been published online, but I am told it will be held at 9:30 a.m. in Room 2123 of the Rayburn House Office Building.) In addition to testimony from the three companies who received Congressional letters in mid-May (Pathway Genomics, 23andMe and Navigenics), Turna Ray of Pharmacogenomics Reporter reports that the GAO’s Forensic Audit and Special Investigations Unit will present findings from its investigation of four genetic testing companies (the three receiving Congressional letters, along with Decode Genetics).

After the House hearing concludes, the waiting will continue. The FDA is currently accepting written comments on its proposal to regulate LDTs, and the NIH continues to hold open the window for comments on its forthcoming Genetic Testing Registry. It will likely be September at the earliest before either agency has had an opportunity to review those comments and put forward a more concrete proposal for public comment.