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Linked electronic medical records for genomic research

I’ve just come across an interesting study on BMC Medical Genomics. Authors aim at linking electronic medical records and genomic data which is I believe a very promising approach. The Personal Genome Project did something similar but only with 10 participants.

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.

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.

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.

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