Ethical and practical challenges of sharing data from genome-wide association studies: the eMERGE Consortium experience

Abstract

In 2007, the National Human Genome Research Institute (NHGRI) established the Electronic MEdical Records and GEnomics (eMERGE) Consortium (www.gwas.net) to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research. One of the major ethical and administrative challenges for the eMERGE Consortium has been complying with existing data-sharing policies. This paper discusses the challenges of sharing genomic data linked to health information in the electronic medical record (EMR) and explores the issues as they relate to sharing both within a large consortium and in compliance with the National Institutes of Health (NIH) data-sharing policy. We use the eMERGE Consortium experience to explore data-sharing challenges from the perspective of multiple stakeholders (i.e., research participants, investigators, and research institutions), provide recommendations for researchers and institutions, and call for clearer guidance from the NIH regarding ethical implementation of its data-sharing policy.

Figure 1.

Data sharing for eMERGE is composed of three central tenets: (1) sharing of research data, including genomic data, between sites; (2) sharing of research data among all sites and the Administrative Coordination Center (ACC) with the facilitation of data flow enabled by the ACC or any particular site; and (3) sharing of data with secondary investigators through external NIH databases, namely dbGaP.