Practical barriers and ethical challenges in genetic data sharing.
Claire L Simpson, Aaron J Goldenberg, Rob Culverhouse, Denise Daley, Robert P Igo, Gail P Jarvik, Diptasri M Mandal, Deborah Mascalzoni, Courtney Gray Montgomery, Brandon Pierce, Rosemarie Plaetke, Sanjay Shete, Katrina A B Goddard, Catherine M Stein
Author Information
Claire L Simpson: Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD 21224, USA. claire.simpson@nih.gov.
Aaron J Goldenberg: Department of Bioethics, Case Western Reserve University, Cleveland, OH 44106, USA. aaron.goldenberg@case.edu.
Rob Culverhouse: Department of Internal Medicine, Washington University in St. Louis, St. Louis, MO 63110, USA. rculverh@dom.wustl.edu.
Denise Daley: Department of Medicine, University of British Columbia, Vancouver, BC V6Z 1Y6, Canada. denise.daley@hli.ubc.ca.
Robert P Igo: Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD 21224, USA. rpi@case.edu.
Gail P Jarvik: Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA 98195, USA. gjarvik@medicine.washington.edu.
Diptasri M Mandal: Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA. dmanda@lsuhsc.edu.
Deborah Mascalzoni: EURAC Institute of Genetic Medicine, Bolzano 39100, Italy. deborah.mascalzoni@eurac.edu.
Courtney Gray Montgomery: Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA. courtney-montgomery@omrf.org.
Brandon Pierce: Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD 21224, USA. bpierce@health.bsd.uchicago.edu.
Rosemarie Plaetke: Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD 21224, USA. rplaetke@alaska.edu.
Sanjay Shete: Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD 21224, USA. aaron.goldenberg@case.edu.
Katrina A B Goddard: Computational and Statistical Genomics Branch, National Human Genome Research Institute, Baltimore, MD 21224, USA. rculverh@dom.wustl.edu.
Catherine M Stein: Department of Epidemiology & Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA. cmj7@case.edu.
The underlying ethos of dbGaP is that access to these data by secondary data analysts facilitates advancement of science. NIH has required that genome-wide association study data be deposited in the Database of Genotypes and Phenotypes (dbGaP) since 2003. In 2013, a proposed updated policy extended this requirement to next-generation sequencing data. However, recent literature and anecdotal reports suggest lingering logistical and ethical concerns about subject identifiability, informed consent, publication embargo enforcement, and difficulty in accessing dbGaP data. We surveyed the International Genetic Epidemiology Society (IGES) membership about their experiences. One hundred and seventy five (175) individuals completed the survey, a response rate of 27%. Of respondents who received data from dbGaP (43%), only 32% perceived the application process as easy but most (75%) received data within five months. Remaining challenges include difficulty in identifying an institutional signing official and an overlong application process. Only 24% of respondents had contributed data to dbGaP. Of these, 31% reported local IRB restrictions on data release; an additional 15% had to reconsent study participants before depositing data. The majority of respondents (56%) disagreed that the publication embargo period was sufficient. In response, we recommend longer embargo periods and use of varied data-sharing models rather than a one-size-fits-all approach.
References
Am J Hum Genet. 2009 Feb;84(2):251-8
[PMID: 19215731]
