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

The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies,10.1186/1755-8794-4-13,BM

The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies   (Citations: 10)
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INTRODUCTION: The 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. ORGANIZATION: The 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 PROGRESS: The 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 ACTIVITIES: Plans are underway to expand the network in diversity of populations and incorporation of GWAS findings into clinical care. SUMMARY: By 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.
Journal: BMC Medical Genomics - BMC MED GENOMICS , vol. 4, no. 1, pp. 13-11, 2011
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    • ...Here we present data from a GWAS analyzing HDL-C using the Marshfield Clinic Personalized Medicine Research Project (PMRP) database ...

    Stephen D. Turneret al. Knowledge-Driven Multi-Locus Analysis Reveals Gene-Gene Interactions I...

    • ...Projects that involve TBI approaches to integrate biological and clinical data are already underway. The NIH-funded eMERGE (Electronic Medical Records and Genomics) project is a multi-site endeavor exploring issues involved with linking genomic information (from genome-wide association studies) with clinical data for individuals with specific conditions....

    Indra Neil Sarkaret al. Translational bioinformatics: linking knowledge across biological and ...

    • ...Electronic health records and the need for de-identification Electronic health records (EHRs) are increasingly being used as a source of clinically relevant patient data for research [1,2], including genome-wide association studies [3]...
    • ...Also, the eMerge network, which consists of five sites in the United States, is an example of integrated EHR and genetic databases [3]...
    • ...The BioVU system at Vanderbilt University, a member of the eMerge network, links a biobank of discarded blood samples with EHR data, and information is disclosed for research purposes after de-identification [3,15]...
    • ...Where patients are approached in advance for consent to include their data in the repository, this is predicated on the understanding that any disclosures will be of de-identified data [3]...

    Khaled El Emam. Methods for the de-identification of electronic health records for gen...

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