| ELECTRONIC MEDICAL RECORDS AND GENOMICS NETWORK – FROM GWAS TO IMPLEMENTATION. Ian Marpuri*, Erwin P. Bottinger, Murray H. Brilliant, David Carey, Rex L. Chisholm, Christopher G. Chute, Jonathan L. Haines, Hakon Hakonarson, John Harley, Gail P. Jarvik, Isaac Kohane, Iftikhar Kullo, Eric B. Larson, Catherine McCarty, Dan Roden, Maureen Smith, Marc S. Williams, Rongling Li, (National Human Genome Research Institute/NIH, Bethesda MD USA) |
| The eMERGE (Electronic Medical Records and Genomics) Network is a consortium funded by the National Human Genome Research Institute to investigate the use of electronic medical records (EMRs) and biorepositories in genomic research (Phase I, 2007-2011) and the incorporation of genomic variants into EMRs for use in clinical care (Phase II, 2011-2014). eMERGE had five study sites in Phase I and now has nine study sites and a Coordinating Center in Phase II. Phase I sites conducted genome-wide association studies (GWAs) for 13 phenotypes on ~19,000 genotyped participants. The Network published GWAs on LDL cholesterol, monocyte count, red blood cell traits, type 2 diabetes, white blood cell count, and hypothyroidism. These Network GWAs identified 12 novel loci and replicated 16 loci. In Phase II, the Network plans to conduct GWAs for 24 additional phenotypes on a total of ~87,000 genotyped participants. Lessons learned in Phase I include design of robust algorithms for EMR-based phenotyping that are transportable across different EMRs and data types, protocols for return of incidental findings, phenome-wide analysis of variants based on ICD9 codes, and model consent language to better inform participants in genomics research. Goals in Phase II include defining standards for clinical validity and actionability, sharing executable phenotype definitions, creating standards for sharing CLIA certified results with EMRs, representing linked genotype-phenotype data in EMRs, and consulting with health care practitioners and patients about return of results. Implementation projects include genomic risk scores, measures of clinical utility and physician uptake of alerts, and a Network pilot study implementing specific pharmacogenetic variants in EMRs.eMERGE’s collaborations within and outside the Network and its large, diverse group of genotyped participants linked to EMRs make it a suitable arena to test the feasibility of using genomic data in clinical care. |