Genomics & Medicine
How Will Myriad Respond to the Next Generation of BRCA Testing?
Robert Cook-Deegan contributed to this commentary. Dr. Cook-Deegan is Director of the Center for Genome Ethics, Law & Policy at Duke University Institute for Genome Sciences and Policy’s and is currently on leave at the Fondation Brocher in Hermance, Switzerland.
The past few months have brought a number of significant research and commercial developments in the BRCA diagnostic testing market, particularly in Europe. These developments have been met by enigmatic comments from the management of Myriad Genetics, the sole provider of commercial BRCA diagnostic testing in the United States and a defendant in ongoing and closely-scrutinized gene patent litigation. What can these recent developments tell us about Myriad’s future plans in both Europe and the U.S.?
The Next Generation of BRCA Testing. Myriad’s current BRCA diagnostic test, BRACAnalysis (pdf), uses a combination of two traditional technologies—Sanger sequencing and PCR—to identify mutations associated with a significant risk of breast cancer and/or ovarian cancer in the BRCA1 and BRAC2 genes. Although Myriad has dabbled with next-generation sequencing technologies, Myriad has yet to announce any concrete plans to apply any of the increasingly numerous and powerful next-generation sequencing technologies to its BRACAnalysis testing.
Others, however, are moving rapidly in exactly this direction.
Getting Our Act Together for the Second Decade of Human Genomics
[Editor's Note: This post originally appeared at Daniel MacArthur's blog Genetic Future, which is part of Wired Science Blogs.]
We have recently summarized efforts by two state legislatures to design regulatory schemes addressing issues raised by the proliferation of genetic information about individuals. New York’s effort addresses questions of insurance coverage for genetic testing. Massachusetts’ goes much further, calling itself a “Genetic Bill of Rights,”a title that accurately reflects its ambitions. In reviewing both of these proposals we have made the point that state-level legislation is no substitute for a coordinated and long-overdue federal-level approach.
But who will lead that coordinated federal effort? As we wrote recently, since the 2008 publication of a SACGHS report identifying major gaps in the regulation of genetic testing, that committee has been disbanded and no clear successor has emerged to champion these issues at the federal level. Last week, the National Human Genome Research Institute (NHGRI), which was originally created by the NIH to support the Human Genome Project, and is today tasked with advancing the understanding and application of human genomics, updated its long-term strategic plan for the first time since 2003 (pdf). Although a “critical part” of the NHGRI’s mission is the “study of the ethical, legal and social implications (ELSI) of genome research,” the Institute’s new roadmap barely touches upon ELSI issues, and dispenses with “legal and public policy issues” in a single sentence by noting the need for “collaborations.”
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.
Restricting Gene Patents: A Pro-Market Agenda
This commentary is contributed by James P. Evans, clinical professor genetics and medicine at the University of North Carolina and Editor-in-Chief of Genetics in Medicine.
Gene patents have been controversial since they were first granted in the US over two decades ago. The controversy is now reaching a fevered pitch after a surprising US District Court decision which held that human genes are not legitimately patentable and an amicus brief by the Department of Justice largely in support of this contention. How this case will be decided by the Court of Appeals for the Federal Circuit and the Supreme Court (should it accept the inevitable appeal) is anyone’s guess.
But in spite of what might be suggested by the rhetoric often accompanying this debate, the questions at hand are amenable to logical analysis and the application of evidence. Such an analysis argues strongly that if patents on naturally occurring genes are ultimately ruled out of bounds, the net effect on commerce would be positive.
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.
Induced Infringement Heads to Supreme Court Amid Myriad Takeover Speculation
On Monday we wrote about the Salzberg Screen—a do-it-yourself alternative to Myriad’s BRACAnalysis test to identify deleterious mutations in the BRCA genes. We wondered whether the Salzberg Screen, which is intended to allow users to “circumvent [Myriad’s] gene patents,” could expose its designers to indirect patent infringement liability.
In a related development, this week the Supreme Court decided to hear a case (Global-Tech Appliances, Inc. v. SEB S.A.) that asks whether the legal standard for the ‘state of mind’ element of an inducement of infringement claim under Section 271(b) of the Patent Act requires “purposeful, culpable expression and conduct” or merely “deliberate indifference.” The Court’s decision, which will not come until next year, will bear on the degree of knowledge of an alleged infringer required to make out a claim for inducement of infringement.
The Past, Present and Future of DTC Genetic Testing Regulation
[Editor’s Note: Newsweek science editor Mary Carmichael has a DNA Dilemma. As Carmichael debates whether to take a direct-to-consumer (DTC) genetic test, she is soliciting feedback from the DTC community, from the public and from other commentators, including myself. At the end of the week, she will make her decision.
On Tuesday, Carmichael and five commentators examined what can be learned from a DTC genetic test. Yesterday, the topic was whether DTC genetic tests are trustworthy, and whether the results can be cause for concern. Today’s topic is the regulation of DTC genetic tests. In addition to several short commentaries, including a much shorter version of the piece below, Carmichael has also posted a lengthy interview with two top FDA officials on the subject of DTC genetic testing regulation.
The column below is an expanded version of what appears over at Newsweek. To see all of the commentaries in Carmichael’s series, click here.]
The recent media attention focused on direct-to-consumer (DTC) genetic tests has left companies, investors, consumers and even regulators scrambling to figure out what comes next.
As the situation stands today, companies and their investors live in a climate of unprecedented regulatory uncertainty, causing delays in the introduction of new products and rendering an already inhospitable economic climate – for both fundraising and sales – even more challenging. Commentators and regulators caution consumers that some DTC genetic tests may be unreliable or, worse, harmful, but have yet to provide clear tools and guidelines for evaluating competing tests. And regulators, including the FDA, must balance their mandate to protect the health and safety of the public with that same public’s desire for autonomy, while also recognizing that innovation is a prerequisite for a healthcare system that must continue to improve outcomes while reducing costs.
Clearly, something must change. But what will that change be? And how will the field of DTC genetic testing evolve? Will DTC be able to continue its current business while regulators and companies engage in protracted negotiations? Will oversight weed out the “snake oil salesmen” and permit legitimate companies to flourish? Will it drive all genetic testing (temporarily) out of the hands of consumers?
Or will the field change in a dramatic and completely unexpected way?
“From Gulf Oil to Snake Oil”: Congress Takes Aim at DTC Genetic Testing
It has been a busy week in Washington for direct-to-consumer (DTC) genetic testing companies. Following public FDA meetings and a new round of FDA device notification letters earlier in the week, representatives from three major DTC genetic testing companies (23andMe, Navigenics and Pathway Genomics) were hauled in front of Congress today to defend their companies, their industry and the practice of DTC genetic testing.
The hearing on “Direct-To-Consumer Genetic Testing and the Consequences to Public Health” was conducted by the House Committee on Energy and Commerce Subcommittee on Oversight and Investigations. The meeting was chaired by Representative Bart Stupak of Michigan. Materials from the hearing, including a briefing memorandum, opening statements from Stupak and Representative Henry Waxman of California and witness testimony are available on the Committee’s website. Also available are materials from the Government Accountability Office (GAO) investigation into DTC genetic tests. These materials include the report the GAO submitted to Congress – “Direct-to-Consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices” (pdf) – as well as a YouTube video featuring excerpts from undercover phone calls made by the GAO to DTC companies as part of their investigation (both of which are discussed in detail below).
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:
