eMERGEing progress in genomics-the first seven years

Abstract

The electronic MEdical Records & GEnomics (eMERGE) network was established in 2007 by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) in part to explore the utility of electronic medical records (EMRs) in genome science. The initial focus was on discovery primarily using the genome-wide association paradigm, but more recently, the network has begun evaluating mechanisms to implement new genomic information coupled to clinical decision support into EMRs. Herein, we describe this evolution including the development of the individual and merged eMERGE genomic datasets, the contribution the network has made toward genomic discovery and human health, and the steps taken toward the next generation genotype-phenotype association studies and clinical implementation.

Keywords: biobanks; electronic medical records; genome-wide association studies; pharmacogenomics.

Figure 1

Major activities of the Genomics Work Group of the eMERGE network. Abbreviations: CHOP, Children's Hospital of Philadelphia; CCHMC, Cincinnati Children's Hospital Medical Center; BCH, Boston Children's Hospital; GHC, Group Health Cooperative; UW, University of Washington; PSU, Pennsylvania State University; QC, quality control; EMR, electronic medical record; PheWAS, phenomewide association study; EWAS, environment-wide association study; CNV, copy number variation; PGx, pharmacogenomics.