Back to the Future: NIH to Revisit Genomic Data-Sharing Policy
As first reported by GenomeWeb, last week the NIH issued a “Notice on Development of Data Sharing Policy for Sequence and Related Genomic Data.” Although the title doesn’t exactly trip off of the tongue, the NIH’s announcement provides an opportunity to review where we are and where we have already been when it comes to genomic data-sharing.
At the heart of the NIH’s announcement is a desire to increase the availability of genomic datasets. From last week’s notice:
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Consistent with the NIH mission to improve public health through research and the longstanding NIH policy to make data publicly available from the research activities that it funds, the NIH has concluded that the full value of sequence-based genomic data can best be realized by making the sequence, as well as other genomic and phenotype datasets derived from large-scale studies, available as broadly as possible to a wide range of scientific investigators.
For NIH-funded genomic researchers, this language should have a familiar ring. In 2007, the NIH published a policy covering data-sharing for genome-wide association studies (GWAS) that required all NIH-funded GWAS research be deposited in a central data repository. Here’s the mission statement from the 2007 policy:
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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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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….
U.K. House of Lords Issues Report on Genomic Medicine
On July 7, the Science and Technology Committee of the United Kingdom’s House of Lords issued its report on genomic medicine (pdf). The Report is optimistic about the potential long-term benefits of translating advances in genetics into substantial improvements in medical care but determines that the National Health Service (NHS) is not currently equipped to take advantage of this scientific revolution. The Report identifies existing institutional deficiencies and makes a variety of recommendations for improving the U.K.’s current system.
The following first summarizes key features and recommendations of the Report and then considers how the Report may influence legislative and regulatory developments in the United States, as well as in the U.K.
Part I: Recommendations for Genomic Medicine
At a hefty but still manageable 126 pages, the full Report is recommended reading for those interested in the field of genomic medicine in any country with a developed healthcare system. But for the sake of convenience, some of the highlights of the Report are summarized below.
