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Mixed response to NIH database plan

NIH?s plan for a genome wide association studies database has support, but many believe the devil may be in the details

By | October 9, 2006

Scientists, academics, and industry representatives appear to have mixed feelings about the National Institutes of Health's plan to create and make publicly available a centralized database of human genomic and phenotypic information derived from NIH-funded genome wide association studies (GWAS). The studies explore variations across the entire human genome in hopes of drawing correlations between genetic associations and phenotypic traits and diseases. "Whole genome information, when combined with clinical and other phenotypic data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine," the NIH said in announcing its proposal. The agency is soliciting comments on the proposal through Oct. 31, 2006, and plans a Town Hall meeting in December. The draft GWAS policy calls on NIH-funded investigators to submit genotypic and phenotypic data stripped of identifiable information to a centralized NIH data repository at the National Library of Medicine "as rapidly as possible." Investigators seeking access to the database would be required to sign an agreement, through their research institutions, to protect patient confidentiality, use the data only for the approved research purpose, refrain from selling or sharing data elements from subsets, and provide annual progress reports, among other stipulations. Principal investigators submitting data would have a nine-month grace period during which they would be the only ones allowed to publish analyses in scientific journals. The policy also requests that recipients of GWAS data acknowledge the submitting investigator in any published works. The NIH has about 20 GWAS-related projects underway and more than 100 clinical studies available using samples that already have been collected, the agency reported in February. The National Human Genome Research Institute (NHGRI) recently published three new requests for applications under NIH's Genes and the Environment Initiative, a GWAS-related multi-year project with requested annual funding of $40 million. "We are getting vast amounts of data, far more data than anyone can reasonably analyze or make the most out of," said Susan Shurin, deputy director of the National Heart, Lung, and Blood Institute (NHLBI), who helped develop the draft policy. "It's a public resource, and we need to be sure we get the most public health benefits from it," she told The Scientist. An informal survey by The Scientist of researchers, academics, and industry representatives found general support for having a public GWAS database, but also concern over how to insure subjects' privacy and other issues. "Research participants should be made clear about what information is being collected, who has access to it, and what the protections are around it," said Joan A. Scott, deputy director of the Genetics and Public Policy Center at Johns Hopkins University. "Institutional IRBs could benefit from having as clear instructions and protocols as possible on what the protections should be," she told The Scientist. Scott Kahn, chief information officer at Illumina, Inc., a San Diego-based manufacturer of high-throughput screening equipment, expressed concern about how the NIH will handle informed consent when adding legacy data from previous studies, which might be "modest in amount, but with perhaps lots of cohorts," he said. "How will they go back to have those people update their consents?" he asked. Robert C. Elston, director of the Division of Genetic and Molecular Epidemiology at the Case Western University School of Medicine, opposes making genotypic databases available at all, even when stripped of identifiers. "DNA typing itself is a complete identifier, better than a name and address," he said. "Anybody could, in principle, find out who that is and match it up from disease and clinical data," Elston told The Scientist. "As an investigator, I would love to have access to all these data, analyze it any way I want. I'm just worried that somehow, somebody irresponsible would get hold of the data." Others worry that the language about patenting in the proposal is not clear enough. The proposal declares that "premature or inappropriate patents [could] impede future research" and states that researchers must agree not to seek patents on discoveries from the GWAS database. "That sounds like a good thing, but it still leaves users very unclear as to what can and can't be done," says John Fraser, executive director of Florida State University's Office of Intellectual Property and Commercialization and president of the Association of University Technology Managers (AUTM). "Our Bayh-Dole rights are being eroded through this process," he added, referring to legislation that encourages the commercialization of federally sponsored research. Fraser stressed that his response was his own, noting that AUTM has not yet taken a position on the proposal. NIH officials hope for a large number of comments to the draft policy. The Association of American Medical Colleges is in the process of soliciting reactions from its members and plans to submit comments soon. However, the Federation of American Societies for Experimental Biology (FASEB) isn't planning to weigh in. "This may be one of those things that doesn't hit our radar screen until someone tries to [gain access] and finds they are blocked," said Howard Garrison, FASEB's public affairs director. "We will try to make it not overly burdensome and awkward," NHLBI's Shurin said of the proposed policy. "The issues are very, very complex." Ted Agres Links within this article: Genome-Wide Association Studies Request for Information (RFI): Proposed Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies, Federal Register, August 30, 2006, Vol. 71, Number 168, Page 51629-51631] Comment Page for Request for Information (RFI): Proposed Policy for Sharing of Data obtained in NIH supported or conducted Genome-Wide Association Studies (GWAS) National Library of Medicine Feb. 8, 2006 NIH press release: "Two NIH Initiatives Launch Intensive Efforts to Determine Genetic and Environmental Roots of Common Diseases." NHGRI RFA Genes and the Environment Initiative Genetics and Public Policy Center at Johns Hopkins University Illumnia, Inc. Case Western Department of Epidemiology & Biostatistics Florida State University Office of Intellectual Property and Commercialization AUTM Bayh-Dole Act of 1980 AAMC FASEB

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