Weekly Roundup: Science Funding, DTC and Medical Device Caucusing
With so many developments at the intersection of genomics and the law, there are often a variety of interesting stories that, for one reason or another, don’t find their way into a full-length posting on the Genomics Law Report. Here we recap several recent key developments and, at bottom, round up all of the recent tweets from @genomicslawyer.
The Continuing Threat of Decreased Science Funding. At least for the moment, the two houses of Congress appear, finally, to be edging toward a budget compromise that would bridge the $51 billion gap between the House bill (which passed at the beginning of March) and the most recent Senate proposal. That’s a good thing, given that the current continuing resolution is set to expire on April 8.
Nevertheless, it seems increasingly clear that federal science funding is unlikely to increase from its fiscal year 2010 levels, and funding almost certainly will not meet the targets President Obama set in his FY 2012 budget proposal.
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.”
Digging Deeper into the EEOC’s Final GINA Regulations
As we wrote yesterday, last week the Equal Employment Opportunity Commission (EEOC) issued definitive rules and regulations (pdf) with respect to Title II of the Genetic Information Nondiscrimination Act of 2008 (GINA). In our previous post we offered a brief overview of the new regulations, as well as some preliminary suggestions for employers just now coming to grips with GINA.
We also promised to take a closer look in today’s post at several substantive features of the EEOC’s new regulations.
Defining the Terms. The EEOC, the government agency generally responsible for enforcing federal employment nondiscrimination laws, was the logical choice to promulgate regulations under GINA’s Title II, which governs the use of genetic information by employers and similar entities. But not all of GINA’s statutory provisions were within the EEOC’s area of expertise.
Genomic Privacy and Re-Identification Redux
New research published this week in the Proceedings of the National Academy of Sciences from Loukides et al. offers up a new method for preserving individual privacy while linking genomic and healthcare data. (“Anonymization of electronic medical records for validating genome-wide association studies.”) Daniel Cressey of Nature News and Katharine Gammon of Technology Review have concise (and free) summaries.
As we’ve written earlier (“Back to the Future: NIH to Revisit Genomic Data-Sharing Policy”), the ability to link – and to share – genotype and phenotype data (including medical records, particularly treatment and outcome data) will be essential to the development of the next generation of genomic research. One of the most common ways to link genotype and phenotype data is to combine genomic data with electronic medical records (EMRs). A particular patient’s EMR may contain everything from basic biographical information to family medical history to current diagnoses, including ICD codes. When it comes to associating genes with medical conditions, researchers rely on International Classification of Disease (ICD) codes to categorize individual patients by disease type and search for shared genetic variations that might play a causal role.
Cracking the Codes. Obviously identifying information (e.g., biographical information) is generally required to be removed pursuant to HIPAA regulations. ICD codes, however, are sometimes retained for purposes of genetic association research and, in some circumstances, a set of otherwise anonymous ICD codes pulled from an EMR can be traced backwards to identify the specific individual supplying the codes.
Re-identification and its Discontents
Last fall, a paper from Homer et al. in PLoS Genetics made waves by demonstrating that it was possible, in principle, to identify an individual’s genomic data within a large dataset of pooled genomic data. Pooled or aggregated genomic data had previously been considered to provide individual research participants with a strong measure of privacy. The paper from Homer et al. produced an immediate reaction from the genomic research community, prompting the National Human Genome Research Institute (NHGRI) to immediately restrict pooled genomic data (pdf) that had previously been accessible (pdf) to the public. Other institutions including the Wellcome Trust and the Broad Institute quickly followed suit.
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Does Familiarity Breed Acceptance? New Program Encourages Young Doctors to Get Personal with DTC Genomics.
The Genomics Law Report launched its new series What ELSI is New? yesterday with guest commentaries from Hank Greely and Misha Angrist. One of the issues that both Greely and Angrist tackle—from different angles and with decidedly different styles—is the widely acknowledged shortage of health care professionals qualified to understand and interpret genomic information of increasing prevalence and complexity.
By sheer coincidence, yesterday’s Boston Globe profiled a new program at Beth Israel Deaconess Medical Center that invites pathology residents to learn about DTC genetic testing in a novel way: by becoming customers themselves.
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Informed Consent for Pediatric Biobanking
What rules should govern the participation of children in large-scale genomic biobanking research? That’s the question that David Gurwitz, Isabel Fortier, Jeantine E. Lunshof and Bartha Maria Knoppers tackle in a policy forum piece in the current issue of Science.
The Importance of Open Consent
In considering the use of DNA samples and phenotypic data provided by children to biobanks, Gurwitz et al. argue that the traditional notion of confidentiality or anonymity, at least when it comes to genomic data, is an illusory one:
DNA remains unique as a permanent identifier throughout an individual’s life… As sequencing of entire genomes becomes a routine procedure, DNA donors’ privacy can never be completely ensured within biobanks. Individuals can be traced even in very large aggregate data sets spanning thousands of donors. As a consequence, there is no ‘opting out’ from biobanks once DNA sequences have been published and deposited with public databases.
Along with one of the co-authors of the Science piece (Lunshof), I’ve written previously about the inability to promise privacy in the genomic context (pdf). That premise, coupled with the determination that informed consent requires open and complete disclosure of the risks of participation in genomics research, has served as the basis for of the Personal Genome Project’s (PGP) informed consent protocol (pdf):
If you are enrolled in the PGP, your genetic and trait information will not be maintained or made available in a confidential or anonymous fashion. Your genetic and trait information will be made available via a publicly accessible website and database….
Is the ACCP’s Call for Greater Governmental Regulation of DTC Genetics Premature?
Another player has entered the debate over direct-to-consumer (DTC) genetic testing and come down on the side of greater regulation. In a position statement authored by Barbara Ameer and Norberto Krivoy (pdf), the American College of Clinical Pharmacology (ACCP) proposes greater regulation of laboratory genetic tests generally, DTC advertising of genetic tests, and communication to consumers of genetic test results.
The ACCP’s position paper faults a number of features of the current regime: (i) the FDA does not require premarket review of laboratory-developed tests; (ii) even if conducted in CLIA certified laboratories, the clinical validity of laboratory-developed tests (which includes most DTC genetic testing) is not regulated; (iii) there is no regulatory oversight system for advertising of DTC genetic tests; and (iv) the communication of DTC test results is not mediated through a trained clinician. The ACCP fears that consumers are insufficiently protected in the current unregulated environment, with the result that “at a population level, these collective [negative] experiences may give future genetic testing a poor reputation, and it consequently may not be trusted by consumers.” The ACCP further cautions that the “inequitable regulatory policy regarding laboratory-developed tests [may stifle] innovation in the creation of validated genetic tests.” The position paper does not state, or offer any data suggesting, that any such stigma currently attaches to genetic testing or that innovation is being stifled.
NHGRI Commits $9.5 Million to Spur Innovation
This week, the National Human Genome Research Institute (NHGRI) committed an additional $9.5 million to fund advancements in genome-sequencing in pursuit of its goal to “reduce the cost of sequencing a mammalian-sized genome to approximately $1,000.” Through its “Revolutionary Genome Sequencing Technologies—The $1,000 Genome” program, the NHGRI continues to drive a remarkable decline in the cost of genomic sequencing (pdf) that leading experts, including former NHGRI Director Francis Collins, predict will soon produce a $1,000 human genome.
Earlier this week, the GLR noted that the United States Patent and Trademark Office has seen fewer applications for genomics-related trademarks, which could be an indicator of a declining rate of innovation in that area. Whether or not that is actually the case, the NHGRI continues to do its part to keep the ideas – and the funds – flowing.
