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 L. Pierce, Rosemarie Plaetke, Sanjay Shete, Katrina A.B. Goddard, Catherine M. Stein

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


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.

Original languageEnglish
Pages (from-to)8383-8398
Number of pages16
JournalInternational journal of environmental research and public health
Issue number8
StatePublished - Aug 1 2014


  • Collaboration
  • Data sharing
  • ELSI
  • Ethics
  • GWAS
  • Identifiability
  • Publication embargo


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