The FDA and DTC Genetic Testing: Setting the Record Straight
Earlier this week, I attended a public two-day meeting of the FDA’s Molecular and Clinical Genetics Panel (“MCGP”) in Gaithersburg, MD. The meeting was not particularly well attended (approximately 100 people were in the room) but the topic of the panel’s deliberations – how to appropriately regulate direct-to-consumer (DTC) genetic tests – has sparked intense and ongoing public debate.
Numerous private and public conversations following the meeting indicate that there is considerable confusion about what actually happened at the meeting, including what the MCGP “recommended” to the FDA and what the FDA is likely to do with those recommendations. With that in mind, I followed up today with Dr. Alberto Gutierrez and Dr. Elizabeth Mansfield of the FDA’s Office of In Vitro Diagnostic Evaluation and Safety (OIVD) to seek clarification.
Looking Ahead After the FDA’s DTC Meeting
Day one of the FDA’s two-day public meeting on the future of clinical DTC genetic testing is in the books. Those unable to attend in person were, unfortunately, forced to resort to Twitter coverage of the proceedings as the government declined to provide a live webcast. (I’m told there will not be a recorded webcast either. Perhaps the FDA is engaging in preventative cost-cutting.)
The first day was divided into three roughly equal parts: background presentations from the FDA and invited speakers, a second set of “public presentations” by companies and individuals who requested time to present their views and, finally, public deliberations by the Molecular and Clinical Genetics Panel (“MCGP”). Tomorrow will feature more public presentations, several more sessions of MCGP deliberations and, at the end of the meeting, recommendations from the MCGP to the FDA on the questions presented (pdf) by the FDA.
A Familiar Feeling to Day One. The first two sessions, which featured presentations to the MCGP, followed a fairly familiar script. Opponents of clinical DTC genetic testing worried that incorrect or misinterpreted tests could produce harmful outcomes, and questioned whether there was anything of value to be gained from the tests in the first place. Proponents argued that the DTC model empowered patients to explore their genetic selves without any ill effects. For those who attended or followed last summer’s two-day public meeting to discuss the FDA’s proposal to regulate laboratory developed tests (LDTs), much of the conversation echoed what was said on day two of that meeting during the direct-to-consumer (DTC) session.
Clearing a Path for DTC Oversight
In a few hours, the FDA will kick off a two-day public meeting to consider the future of clinical direct-to-consumer (DTC) genetic tests. Few corners of the personal genomics landscape have generated as much attention from regulators, consumers and, especially, the media as DTC genetic testing. Thus, when the meeting was first announced last month, we applauded the FDA’s attempt to examine DTC’s unique set of issues separate from other larger and ongoing regulatory conversations, including whether and how to regulate the far more numerous category of laboratory developed tests (LDTs).
So just what should we expect from the next two-days? 2010 saw a flurry of DTC-related regulatory and legislative activity but, ultimately, little in the way of new oversight or concrete guidance. Both regulators (including the FDA) and industry appear to have responded in 2011 with a more measured approach, and this week’s meeting is an opportunity to thoroughly examine the state of DTC genetic testing and develop a clear, sensible strategy for future oversight of the industry.
Over at Genetic Future, Daniel MacArthur has already weighed in, adopting a tone of cautious optimism in advance of the DTC meeting. Meanwhile, with just a few hours left until the meeting kicks off, here are three key points I’ll be emphasizing in my own talk tomorrow morning (slides):
Update: FDA Taking Another (Public) Look at DTC Genetic Tests
Direct-to-consumer (DTC) genetic tests are back on the FDA’s public radar screen. A month from today, the agency’s Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee will meet to “discuss and make recommendations on scientific issues concerning [DTC] genetic tests that make medical claims.” Here is the Federal Register notice (pdf).
The two-day meeting, which is open to the public, will investigate the following topics:
- The risks and benefits of making clinical genetic tests available for “direct access by a consumer without the involvement of a clinician (i.e., without a prescription).”
- The different types of DTC or direct access tests (e.g., carrier screening, risk prediction in healthy persons, pharmacogenetics, etc.) that might “support differences in the regulatory approach.”
- The “level and type of scientific evidence appropriate for supporting [DTC] claims, including whether it should be different than” what is required for similar clinical genetic tests (presumably, non-DTC in vitro tests, including laboratory developed tests, or LDTs).
A complete agenda and list of speakers has yet to be published, but the fact that the FDA is singling out DTC genetic tests for specific attention is sure to be a welcome sign to many.
2011 Personal Genomics Preview: It’s Déjà Vu…
Last January we kicked off the new year by posing “Five Questions for Personal Genomics in 2010.” Here were the five questions we asked:
1. Will the $1,000 genome live up to the hype?
2. Will personal genomics stay DTC?
3. How will the ongoing gene patent debate affect the progress of personalized medicine?
4. When and where will the next regulatory shoe fall?
5. Who will control the data?
A year later the question that comes first to mind is, has anything really changed?
The short answer is no, not fundamentally, although that is not meant to imply that nothing of note happened in 2010. Far from it, as significant legal, regulatory, policy and technological developments continued to reshape the personal genomics landscape.
With that in mind, we welcome 2011 with a look back at the year that was, and a look ahead at what to expect from 2011 and beyond.
Surreptitious Genetic Testing: WikiLeaks Highlights Gap in Genetic Privacy Law
The top news story the past two weeks: the release of hundreds of thousands of confidential American diplomatic cables by WikiLeaks. While dissecting diplomatic maneuvering is not a traditional area of expertise for the Genomics Law Report, a pair of cables did catch our eye.
The first is primarily a curiosity: the allegation that Chinese authorities are spying on deCode Genetics, Iceland’s most prominent genetic research company and provider of the direct-to-consumer genetic testing service, deCODEme. Nobody seems to know exactly what China is looking to gain by clandestinely exploring Iceland’s genetic genealogy. You are welcome to speculate in the comments.
The second raises broader issues: the revelation that the State Department’s ongoing human intelligence collection directives include requests for “biometric information” on key world leaders, including United Nations arms inspectors, the Director General of the World Health Organization (WHO) and key advisors and aides to United Nations Secretary General Ban Ki-moon. A separate cable detailing intelligence collection priorities in Africa’s Great Lakes region clarifies that “biometric information” includes “health [data]…fingerprints, facial images, DNA, and iris scans.”
Not disclosed in the WikiLeaked cables: why the State Department wants the biometric data or whether any have been successfully obtained.
Surreptitious Testing: An Overview. The cables are, however, a reminder that the law surrounding the surreptitious collection and testing of biometric data, including DNA, remains extremely murky.
A Thanksgiving Tradition: 23andMe Repackages Product, Raises Prices
Last November, just before Thanksgiving, 23andMe, the most popular provider of direct-to-consumer (DTC) genetic testing products, announced a new product and pricing model. The company took its most popular product—a $399 all-in-one genotyping service—and split it into two separate products, an “Ancestry Edition” and a “Health Edition.” It also raised prices, with the complete package jumping from $399 to $499.
This November, just before Thanskgiving, 23andMe announced it was undoing most of last November’s changes, eliminating the separate ancestry and health editions and offering, once again, a single product. Not reversed: the price increase.
A Rationale for Raising Prices. The combined product remains priced at $499, although it now requires a 1 year subscription to 23andMe’s (previously optional) Personal Genome Service (PGS). The PGS, which debuted in September, provides customers with access to regular scientific updates and product features for $5 per month. The changes make the effective list price for 23andMe’s service $559, although the company has run frequent $99 sales, and there are rumors that another one is imminent.
Germany Struggles to Find Balance in Promoting, Regulating Genetic Technologies
Last fall we reported on the passage of the Human Genetic Examination Act by the German Bundestag. We characterized the Gendiagnostikgesetz (GenDG), as the act is known in Germany, as “a clear example of what is known as ‘genetic exceptionalism’—the belief that genetic information is qualitatively different from other forms of personal or medical information—staking out a position near the paternalistic end of genetic regulation.”
The GenDG (pdf) took effect early this year and, until recently, little news of its impact on German law, policy or business has made its way across the Atlantic. Last week, however, several prestigious German scientific academies released a report entitled “Predictive Genetic Diagnostics as an Instrument of Disease Prevention.” The “Academy Group,” as the report’s authors refer to themselves, consists of the Leopoldina, the Berlin-Brandenburg Academy of Sciences and Humanities and the German Academy of Science and Engineering Acatech. Astoundingly, according to a recent editorial in the journal Nature, the report is the first from the group in its 350 year existence.
HHS Pulls the Plug on Genetics Advisory Committee
The clock has run out the Secretary’s Advisory Committee on Genetics, Health, & Society (SACGHS). As reported by Turna Ray of Pharmacogenomics Reporter, the committee, which reports to Health and Human Services (HHS) Secretary Kathleen Sebelius, will have its charter extended only long enough to conduct one final meeting next month.
According to Ray, SACGHS members were notified this week that Secretary Sebelius and NIH Director Francis Collins had determined that “the major topics related to genetic and genomic technologies had been successfully addressed by the committee through its comprehensive reports and recommendations over the years” and, for that reason, the decision was made “to sunset the committee’s charter.”
Getting Serious About Personal Genomics’ Risks
After several months of public drama, the University of California, Berkeley’s ambitious program to introduce its incoming freshmen to personalized medicine reached its denouement in late August.
As part of its program, Berkeley offered students the option to participate in genetic testing for three common genetic variants relevant to the body’s ability to metabolize milk products, alcohol and folic acid. The University’s original plan was to allow students to elect to receive the results of their tests as part of the program. Two weeks ago, however, the California Department of Public Health (CDPH) ruled that if Berkeley wanted to return personalized genetic data to some of its freshmen, the testing must be conducted at the direction of a physician and performed by a licensed clinical laboratory. The significant logistical burden and cost of complying with the CDPH’s ruling forced Berkeley to modify its program. While some aspects of the program will go forward, no student will be able to access any personalized genetic information.
