The Genomics Landscape

The Natural Evolution of Genomic Data Sharing

NHGRI Director Eric Green, M.D., Ph.D.
Eric Green
September 3, 2014

Rapid and broad data sharing has been a hallmark of genomics since the early days of the Human Genome Project (HGP). Today, it is well-appreciated in genomics that the work of individual investigators and large collaborative efforts alike benefits from access to data resources such as ENCODE, 1000 Genomes, and The Cancer Genome Atlas (TCGA). Furthermore, the cumulative benefit realized through the culture of genomic data sharing transcends individual projects, and has been essential to accelerating genomics research across the board.

Letters of A T C G in DNA double helix

On August 26, NIH released its new Genomic Data Sharing (GDS) Policy, updating a previous policy that focused on genome-wide association study data. The new policy promotes sharing a broader array of large-scale human and non-human genomic data generated for appropriate research purposes when those data are generated through NIH-supported or NIH-conducted research. This new policy represents another step the agency is taking to encourage the culture of data sharing and to extend such data-sharing practices beyond large research projects (e.g., HGP and 1000 Genomes). 

Globe with genomic data around The GDS Policy builds upon an existing data sharing framework, ensuring responsible and respectful research participant protections and promoting appropriate access to genomic and associated data. In a recent Nature Genetics article entitled "Data Use under the NIH GWAS Data Sharing Policy and Future Directions", NIH leaders detail the experience to date of the two-tiered access structure established by the Genome-Wide Association Studies (GWAS) Policy and implemented through the database of Genotypes and Phenotypes (dbGaP). Under the GWAS policy, more than 2,200 investigators from 41 different countries have received access to dbGaP data from 304 studies and produced more than 900 publications and significant advances. The findings highlight that access to such data provides not just an opportunity to accelerate research by virtue of combining large and information-rich datasets (or just enabling additional research questions to be addressed), but also the potential to maximize the public benefit achieved through this increased capacity.

Of course, sharing data generated about human research participants must be done in a manner that appropriately protects participant interests and respects the participant agreements for sharing data and health information. Like the GWAS Policy before it, the GDS policy aims to maximize scientific advances and potential public benefit in a manner consistent with research participant informed consent and the provision of appropriate considerations for participant privacy risks. While the new data types covered by the GDS Policy are different from the relatively narrow specifications for GWAS data previously covered, the ethical and scientific issues raised are very similar, and the appropriate principles that should govern responsible data use of various genomic data types are not substantially distinct. Consideration for the broad array of study designs, study populations, and potential consent provisions attached to genomic datasets remains integral to the GDS Policy, as does the agency's commitment to maintain the Policy's data-sharing expectations and participant-protection mechanisms.

Globe with data The ethical use of genomic data and the public's trust in the systems used to govern that use continue to be of paramount concern for NHGRI and NIH. As such, the Institute, the agency, and I, personally, remain committed to the ongoing development and improvement of our data sharing policies and their oversight, so that biomedical (and genomic) research data are maximally utilized to promote public benefit. For further information on the GDS Policy, visit nih.gov/news/health/aug2014/od-27.htm.

The Genomics Landscape is a monthly email message that aims to disseminate information directly from the NHGRI Director to the broader genomics community and other interested recipients. Each month, Dr. Green will endeavor to highlight two to four topics, typically featuring one in greater detail. To receive The Genomics Landscape each month sign up via the following ListServ: The Genomics Landscape Listserv. To suggest topics for future messages, please send an e-mail to: NHGRILANDSCAPE@MAIL.NIH.GOV

More From the Genomics Landscape
  • Genome: Unlocking Life's Code Exhibition Travels North America
    After a little over a year in residence at the Smithsonian's National Museum of Natural History, the exhibition "Genome: Unlocking Life's Code" closed its doors on September 1 and is preparing to tour around North America. Its first stop will be the Reuben H. Fleet Science Center in San Diego, CA, starting later this month. The exhibition will move across North America, ending its journey in Canada in January 2018. For more details and specific destinations on its tour, see genome.gov/27558789
  • modENCODE Consortium Publishes Landmark Papers
    The recently completed model organism ENCyclopedia Of DNA Elements (modENCODE) Project has published three integrative papers in Nature comparing fly, worm, and human genomic data and representing seven years of research. A series of companion papers has been published in Nature, Genome Research, and Genome Biology, with more manuscripts to follow. The goal of modENCODE has been to provide the biological research community with an extensive encyclopedia of genomic functional elements spanning the domains of gene structure, mRNA and ncRNA expression profiling, transcription factor-binding sites, histone modifications and replacement, chromatin structure, DNA replication initiation and timing, and copy number variation in the model organisms C. elegans and D. melanogaster. The findings offer new insights into various aspects of embryonic development, gene regulation, and other biological processes. To learn more, see nih.gov/news/health/aug2014/nhgri-27.htm.
  • ENCODE Dataset Release, New Data Release Policy, and ENCODE Portal
    The Encyclopedia of DNA Elements (ENCODE) Consortium recently released data from the third phase of its program, a continuation of ENCODE and Mouse ENCODE whole-genome data production, with additional resources provided for data processing, analysis, and functional validation. This dataset was also released under a new rapid release policy by which primary data are released after data validation and processed data are released after quality assessment. Unlike the previous ENCODE production phase, there is no moratorium on external use of these data.  All ENCODE data can now be accessed through the new ENCODE portal at encodeproject.org.  The new portal serves as the primary and comprehensive source for data and information about ENCODE, with tools for browsing and searching ENCODE data via assays, biological samples, and experimental reagents used.
  • ASHG-NHGRI Genetics & Public Policy and Genetics & Education Fellows
    For many years, NHGRI has partnered with the American Society of Human Genetics (ASHG) in sponsoring a 16-month Genetics & Public Policy Fellowship. The program, started in 2002, provides the fellow an opportunity to gain valuable policy experience at the Institute, at ASHG, and in the U.S. Congress. This year, ASHG and NHGRI have also teamed up to sponsor a new Genetics & Education Fellowship for a genetics professional to receive training and experience in preparation for a career in genetics/genomics education. I am pleased to announce that this year's Genetics & Public Policy fellow is Kate Blizinsky, Ph.D. and this year's Genetics & Education fellow is Elizabeth Tuck, M.A. For details about the fellowships, visit genome.gov/27558850.
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Last Updated: September 4, 2014
Posted: August 4, 2008