Front Genet. 2014 Mar 26;5:50. eCollection 2014.

Return of results in the genomic medicine projects of the eMERGE network.

Kullo IJ1, Haddad R1, Prows CA2, Holm I3, Sanderson SC4, Garrison NA5, Sharp RR6, Smith ME7, Kuivaniemi H8, Bottinger EP4, Connolly JJ9, Keating BJ9,McCarty CA10, Williams MS11, Jarvik GP12.

Author information

• 1Division of Cardiovascular Diseases, Mayo Clinic Rochester, MN, USA.
• 2Cincinnati Children's Hospital Medical Center Cincinnati, OH, USA.
• 3Boston Children's Hospital Boston, MA, USA.
• 4Department of Genetics and Genomic Sciences, Charles R. Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai New York, NY, USA.
• 5Center for Biomedical Ethics and Society, Department of Pediatrics, Vanderbilt University School of Medicine Nashville, TN, USA.
• 6Biomedical Ethics Program, Mayo Clinic Rochester, MN, USA.
• 7Feinberg School of Medicine, Northwestern University Chicago, IL, USA.
• 8The Sigfried and Janet Weis Center for Research, Geisinger Health System Danville, PA, USA.
• 9Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia Philadelphia, PA, USA.
• 10Research Division, Essentia Institute of Rural Health Duluth, MN, USA.
• 11Genomic Medicine Institute, Geisinger Health System Danville, PA, USA.
• 12Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington Seattle, WA, USA.

Abstract

The electronic Medical Records and Genomics (eMERGE) (Phase I) network was established in 2007 to further genomic discovery using biorepositories linked to the electronic health record (EHR). In Phase II, which began in 2011, genomic discovery efforts continue and in addition the network is investigating best practices for implementing genomic medicine, in particular, the return of genomic results in the EHR for use by physicians at point-of-care. To develop strategies for addressing the challenges of implementing genomic medicine in the clinical setting, the eMERGE network is conducting studies that return clinically-relevant genomic results to research participants and their health care providers. These genomic medicine pilot studies include returning individual genetic variants associated with disease susceptibility or drug response, as well as genetic risk scores for common "complex" disorders. Additionally, as part of a network-wide pharmacogenomics-related project, targeted resequencing of 84 pharmacogenes is being performed and select genotypes of pharmacogenetic relevance are being placed in the EHR to guide individualized drug therapy. Individual sites within the eMERGE network are exploring mechanisms to address incidental findings generated by resequencing of the 84 pharmacogenes. In this paper, we describe studies being conducted within the eMERGE network to develop best practices for integrating genomic findings into the EHR, and the challenges associated with such work.