Personal Genomics Goes to Washington

(Cross-posted to Genomics Law Report.)

Next week, the eyes of the personal genomics world will be focused on Washington, D.C., where the FDA and Congress will be meeting separately to consider the industry’s future. First, the FDA will convene a highly-anticipated public meeting (July 19th and 20th) to “discuss how the agency will oversee laboratory-developed tests (LDTs).” The FDA announced last month a proposal to develop a “risk-based” approach to oversight of all LDTs – a broad category that includes the vast majority of genetic tests, including high-complexity diagnostic tests (IVDMIAs) and direct-to-consumer (DTC) genetic tests. Hot on the heels of the FDA meeting, on July 22nd, the House of Representatives Committee on Energy and Commerce – which two months ago launched its own investigation into the personal genomics industry – will hold a subcommittee hearing on “Direct-to-Consumer Genetic Testing and the Consequences to the Public Health.”¹

While the genomics and personalized medicine communities anxiously await the upcoming FDA and Congressional meetings, yesterday the future of personal genomics was being debated on the opposite coast, at a policy forum in San Francisco entitled “Genomics and the Consumer: The Present and Future of Personalized Medicine” (pdf). The forum, which was hosted by California State Senator Alex Padilla (sponsor of S.B. 482, the so-called “bioinformatics bill”) and personal genomics company 23andMe, was filled with speculation from personal genomics investors, providers, customers and commentators about what the FDA and Congress might have in store for the field.

(As is rapidly becoming the norm, comprehensive real-time coverage of the policy forum was provided via Twitter, with extra credit to Shirley Wu for particularly prolific tweeting. I’ve posted the slides from my own talk, “A Lawyer’s Guide to the Personal Genomics Landscape,” here.)

While the conversation at the forum was predictably wide-ranging, several distinct themes emerged.

Blurring the Lines. The forum featured three panel discussions: one on integrating personalized medicine into the clinic, one of the future of personal genomic research and a final panel on DTC personal genomics. Those three categories – clinical, research, commercial – make a great deal of conceptual sense for mapping the personal genomics landscape. But the actual panel discussions showed that lines between these categories have become increasingly blurred in recent months. Each panel quickly and repeatedly departed from its nominal area of focus to consider issues such as the role that DTC companies can play in genomic research or the distinctions between personalized medicine and personal genomics. Not surprisingly, the topics grabbing such cross-panel attention are among the very topics that will be featured in Washington next week.

Gathering the Data. One consequence of a complex, rapidly-evolving personal genomics landscape is a dearth of empirical data. Although Genetests.org lists over 2,000 genetic tests offered by nearly 600 laboratories, little is known about many of those tests, and many personal genomics products are not represented at all, including most (if not all) DTC genetic tests. Even less is known about who purchases personal genomics products (individuals, healthcare providers, healthcare payors, etc.), their reasons for doing so (for their own curiosity, to inform or to guide treatment decisions, etc.) or how personal genomic information is actually used once it is received. While some limited data has been collected and reported, including in Green et al.‘s REVEAL study and a paper from McGowan and Lambrix on early-adopter attitudes toward personal genomics, there is clearly a need for much more data describing personal genomics in practice. The NIH’s Genetic Testing Registry announced earlier this year is a step in the right direction, although as Daniel MacArthur and I have written elsewhere, a voluntary approach to personal genomics data-gathering may not be sufficient.

All Eyes on Washington. The timing of the policy forum meant that one of the most popular topics of conversation was predicting what will happen in Washington next week (and in the weeks and months that follow). Will the FDA push ahead with its proposal to regulate all LDTs as medical devices and, if so, what will that mean for the thousands of products on or nearing the market? Will one of several pieces of legislation floating around the halls of Congress, including the re-introduced Genomics and Personalized Medicine Act (GPMA) and Senator Hatch’s tongue-twisting “Better Evaluation and Treatment Through Essential Regulatory Reform for Patient Care Act” which would create a new regulatory category of Advanced Personalized Diagnostics (APDx) separate and distinct from either therapeutics or medical devices, attract sufficient support to advance in the legislative process?

While there are some who believe we have reached a turning point in the regulation of genetic testing, my own suspicion is that the upcoming FDA and House meetings will prove in time to be important – but not transformational – when it comes to the law and regulation of genomics and personalized medicine. Although the field of DTC genetic testing may be in its infancy, the much larger fields of genomics and personalized medicine – which include many other forms of genetic testing – have been around for decades. Questions concerning the proper framework of oversight have existed for nearly as long.

The long-running dispute over the FDA’s authority to regulate LDTs at all dates to at least 1992, and the on-again, off-again saga of the agency’s efforts to regulate a subset of high-complexity diagnostic tests (IVDMIAs) began officially in 2006 and is, at least for the moment, back on the shelf while the agency attempts to tackle all LDTs. And then there is the Genetic Information Nondiscrimination Act (GINA), the only piece of federal legislation expressly developed with the age of personal genomics in mind, but one which took as long as the Human Genome Project (13 years) to become law and is still – two years later – far from fully implemented. Looking back, it appears that the only consistent message that has emerged from Washington when it comes to the regulation of genomics and personalized medicine is that nothing will happen quickly.

P4 Regulation. It is possible that a significant legislative or regulatory change will emerge from Washington in the next few months and materially reshape the personal genomics landscape. But history tells us it is unlikely. Far more likely, it would seem, is that the discussion will continue on, with the FDA, Congress and other policymakers engaging stakeholders in an attempt to craft a system of oversight that balances legitimate concerns about the accuracy, efficacy and safety of advances in genomics and personalized medicine with the need to encourage continued progress and innovation in genomic-driven research, commerce and clinical care.

The keynote speaker at yesterday’s policy forum, Dr. Leroy Hood of the Institute for Systems Biology set out his familiar vision for transforming the future of healthcare: “P4 Medicine.” For Dr. Hood, the future of medicine is not only personalized, it is also predictive, preventive and participatory. To succeed, the regulation of genomics and personalized medicine will need to evolve in the same way and, in the end, find support from a legal and regulatory framework that is similarly predictable, personalized, preventive and participatory.

The first three Ps are of evident importance. Any reformed system of oversight must be predictable such that well-meaning researchers, healthcare providers, companies and investors can easily understand and fulfill their responsibilities and personalized to avoid shoe-horning new technologies into old regulatory pathways (e.g., the FDA’s current plan to classify increasingly data-driven diagnostic services as medical devices). It must also be preventive in the sense of being sufficiently robust to locate and remove inadequately vetted technologies and services, thereby preventing the type of bad outcome that could set back the entire field.

But it is the fourth P, participatory, that demands the most immediate action. From the FDA’s public meeting next week to the open call for comments on the NIH’s Genetic Testing Registry to a myriad of less formal channels, opportunities abound for researchers, clinicians, consumers, companies, investors and interested citizens to share their thoughts on what the future laws and regulations governing genomics and personalized medicine should look like. In a field defined by rapidly changing scientific knowledge, technology and commercial models, overburdened legislators, regulators and other policymakers have little choice but to look to those active in the field for guidance on how to proceed.

There can be little doubt that some form of additional oversight is coming to the fields of genomics and personalized medicine. But the regulatory process remains closer to the beginning than the end, with limitless outcomes (for better or for worse) still on the table. Later today I will head down the peninsula to Singularity U, home of futurists and entrepreneurs from all fields, to talk about the legal and regulatory framework for genomics and personalized medicine. My first question to them will be: what do you want that regulatory framework to look like? I put the same question to you, the reader, and invite you to contribute your thoughts below.

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¹ Although I received an email with details about the hearing yesterday (7/22, 9:30 a.m. in room 2123 of the Rayburn House Office Building) the House Energy and Commerce Committee has yet to publicly announce the hearing as of this afternoon.