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Goal is to aid research on common diseases and rare conditions The National Institutes of Health's (NIH) eMERGE Network, a national consortium formed to combine DNA biorepositories with electronic medical record (EMR) systems for research, will soon include pediatric data. The network, which now includes adult biorepositories at seven universities and healthcare organizations, aims to develop and apply approaches that aid large‐scale, high‐throughput genetic research. While genetic association with disease typically involves costly and time‐consuming testing of hundreds of thousands of single nucleotide polymorphisms (SNPs) throughout the genome in people with and without a particular trait, eMERGE member sites need not actively recruit and gather samples from a study population. They now have the advantage of EMR data linked to genetic samples obtained in the course of existing cohort studies, biorepositories, or from residual tissues or blood samples. You need a sufficient population to do gene discovery and to learn about natural history so you can tell families what to expect. Networks like eMERGE make this possible.— Jeffrey Murray, MD eMERGE network sites are also studying ethical, legal, social, and policy issues involved in use of EMRs for this purpose. These include privacy, confidentiality, and interactions with the
American Journal of Medical Genetics Part A – Wiley
Published: Nov 1, 2011
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