The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

Abstract

IntroductionThe eMERGE (electronic MEdical Records and GEnomics) Network is an NHGRI-supported consortium of five institutions to explore the utility of DNA repositories coupled to Electronic Medical Record (EMR) systems for advancing discovery in genome science. eMERGE also includes a special emphasis on the ethical, legal and social issues related to these endeavors.OrganizationThe five sites are supported by an Administrative Coordinating Center. Setting of network goals is initiated by working groups: (1) Genomics, (2) Informatics, and (3) Consent & Community Consultation, which also includes active participation by investigators outside the eMERGE funded sites, and (4) Return of Results Oversight Committee. The Steering Committee, comprised of site PIs and representatives and NHGRI staff, meet three times per year, once per year with the External Scientific Panel.Current progressThe primary site-specific phenotypes for which samples have undergone genome-wide association study (GWAS) genotyping are cataract and HDL, dementia, electrocardiographic QRS duration, peripheral arterial disease, and type 2 diabetes. A GWAS is also being undertaken for resistant hypertension in ≈2,000 additional samples identified across the network sites, to be added to data available for samples already genotyped. Funded by ARRA supplements, secondary phenotypes have been added at all sites to leverage the genotyping data, and hypothyroidism is being analyzed as a cross-network phenotype. Results are being posted in dbGaP. Other key eMERGE activities include evaluation of the issues associated with cross-site deployment of common algorithms to identify cases and controls in EMRs, data privacy of genomic and clinically-derived data, developing approaches for large-scale meta-analysis of GWAS data across five sites, and a community consultation and consent initiative at each site.Future activitiesPlans are underway to expand the network in diversity of populations and incorporation of GWAS findings into clinical care.SummaryBy combining advanced clinical informatics, genome science, and community consultation, eMERGE represents a first step in the development of data-driven approaches to incorporate genomic information into routine healthcare delivery.

Genetic Loci Implicated in Erythroid Differentiation and Cell Cycle Regulation Are Associated With Red Blood Cell Traits

“…9,38 We identified 15 chromosomal loci associated with at least one RBC trait, including 11 loci associated with RBC traits in prior cohort studies. 4,5,7 Notably, genes present in 3 of the 4 loci newly identified in individuals of European ancestry (THRB, PTPLAD1, CDT1) and in 6 of the 11 replicated loci (KLF1, ALDH8A1, CCND3, SPTA1, FBXO7, TFR2/EPO) are implicated in erythroid differentiation and regulation of cell cycle in hematopoietic stem cells.…”

“…9 The 5 participating sites include Group Health CooperativeϪUniversity of Washington (GHC), Marshfield Clinic (MC), Mayo Clinic, Northwestern University (NU), and Vanderbilt University Medical Center (VUMC). Each site is conducting GWAS of multiple phenotypes, with Mayo Clinic investigating genetic loci associated with peripheral arterial disease and RBC traits including HGB, hematocrit (HCT), RBC count, MCV, MCH, and mean corpuscular hemoglobin concentration (MCHC).…”

Phenome-wide association studies (PheWASs) for functional variants

“…Genotyped samples have been described elsewhere 13,14 and have been applied to a previously reported PheWAS. 6 Briefly, all individuals genotyped are selfidentified white/non-Hispanic Marshfield Clinic patients recruited into the Personalized Medicine Research Project (PMRP).…”

Rethinking biobanking and translational medicine in the Netherlands: how the research process stands to matter for patient care

“…18 Furthermore, the PSI is not the only initiative that is uniting clinical sites for establishing research infrastructures for translational medicine. For instance, in the United States the Electronic Medical Records and Genomics (eMERGE) network was established in 2007 by the National Human Genome Research Institute (NHGRI) as consortium 'to explore the utility of DNA repositories coupled to Electronic Medical Record (EMR) systems for advancing discovery in genome science' 19 and has 'the ultimate goal of returning genomic testing results to patients in a clinical care setting '. 20 With that in mind, the PSI is an important example of how such standardized collection processes can not only work to create a high-quality research infrastructure, but also improve patient care.…”