NIH genetic database "a good start"

Researchers say the new NIH policy announced last week for sharing data from genome-wide association studies will increase interest in studies linking genotypes to diseases while securing the anonymity of study participants. However, some raised concerns about the specifics of the plan.

"The basic idea is to make broadly available to the scientific community a lot of these detailed and expensive-to-get data," Howard Edenberg, director of Indiana University School of Medicine's Center for Medical Genomics, told The Scientist. "That, I think, is a worthy goal."

The policy, to take affect next January, establishes a centralized repository at the National Library of Medicine's National Center for Biotechnology Information to which NIH-funded researchers working on genome-wide association studies (GWAS) must submit their data. It also sets guidelines for protecting research participant identities, publishing studies that utilize shared data, and securing intellectual property rights for researchers submitting data. A draft version was released last year, and the policy was finalized on August 28 after a three month public comment period that ended in December.

Francis Collins, director of NIH's National Human Genome Research Institute (NHGRI) and a member of the GWAS policy development committee, called it "the most complicated policy that NIH has assembled in quite some time." NIH received almost 200 comments on the draft proposal from individual researchers, patient advocacy groups, and other groups.

"I think NIH listened carefully to the large amount of input we got last fall," Collins told The Scientist. He noted that the policy paves the way for more researchers to get involved with genome-wide association studies. "I think we needed to step in and empower as many qualified investigators to get involved as possible," he said.

The original proposal stipulated a nine-month time period during which researchers submitting data from a study have exclusive rights to publish their results. In response to researchers' comments that this was too little to analyze and publish such complex data sets, the final version extends this period of exclusivity to 12 months.

A year is still a tight squeeze for publication, said Pablo Gejman, a psychiatry professor at Northwestern University in Illinois. "We will have to work harder on putting manuscripts together and rapidly publishing them," Gejman, who collaborates on several genome-wide association studies and is also based at Evanston Northwestern Healthcare, told The Scientist. Still, he added, the data bank will increase transparency in analyzing and interpreting the information.

Laura Scott, a genetic epidemiologist at the University of Michigan, agreed that centralizing GWAS data would stimulate new analyses of wider data sets. "The data is going to be used to do all sorts of interesting analyses," she said. "It's a wonderful thing to have more than one set of eyes or more than one way of thinking applied to the data."

But she noted that it may complicate the process of obtaining consent from study subjects, and with data available to a wide set of eyes, privacy concerns could make subjects less willing to participate. Institutions will need new consent procedures to inform subjects that their genetic data will be available not just to the researchers conducting a study, but to other members of the scientific community who apply for access, and potentially to law enforcement officials and insurance companies. (Submitted data will be stripped of any information that could link it to a specific individual, and only summary data will be available to the public.)

The GWAS policy states that NIH will develop informational materials to help Institutional Review Boards and institutions through the consent process. Joan Scott (no relation to Laura), deputy director of the Genetics and Public Policy Center at Johns Hopkins University, told The Scientist that such guidance is crucial to the success of NIH's plan. "The more specific guidance NIH can provide the individual IRB's, the better," Scott said. "Right now there is some variation as to how each institution is dealing with these issues."

Increased requirements for data preparation and patient consent will likely also raise the cost for such studies, researchers say. Laura Rodriguez, special advisor to Collins at NGRHI, told The Scientist, "Certainly NIH is aware and supportive of the potential need for additional expenses," adding that requests for those funds would be considered as would any other funding requests in NIH grant applications.

Collins said that NIH will monitor the database and make alterations as concerns arise. "We will certainly be watching closely to see that the intentions of this policy are being achieved," he said. "The strong conclusion is that the public health benefit of this kind of database will justify the time and effort that went into the development of the policy."


Bob Grant
mail@the-scientist.com

Editor's note: A previous version of this article left out Pablo Gejman's affiliation with Evanston Northwestern Healthcare. The oversight has been corrected.


Links within this article:

A. Katsnelson, "NIH to bank genome-wide association data," The Scientist, August 2007.
http://www.the-scientist.com/blog/display/53549/

Howard Edenberg
http://genomics.iupui.edu/EdenbergLab/home.html

Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS)
http://grants.nih.gov/grants/guide/notice-files/NOT-OD-07-088.html

T. Agres, "Mixed response to NIH database plan," The Scientist, October 2006.
http://www.the-scientist.com/news/display/25033/

F. Collins, "Delivering on the dream: Biomedical research in the genomic era," The Scientist, February 2006.
http://www.the-scientist.com/article/display/23067/

Pablo Gejman
http://www.northwestern.edu/nuin/fac/gejman.htm

BK Suarez, et al., "Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: Suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample," Am J Hum Genet., February 2006.
http://www.the-scientist.com/pubmed/16400611

Laura Scott
http://www.sph.umich.edu/iscr/faculty/profile.cfm?uniqname=ljst