An eMERGE Clinical Center at Partners Personalized Medicine
AbstractThe integration of electronic medical records (EMRs) and genomic research has become a major component of efforts to advance personalized and precision medicine. The Electronic Medical Records and Genomics (eMERGE) network, initiated in 2007, is an NIH-funded consortium devoted to genomic discovery and implementation research by leveraging biorepositories linked to EMRs. In its most recent phase, eMERGE III, the network is focused on facilitating implementation of genomic medicine by detecting and disclosing rare pathogenic variants in clinically relevant genes. Partners Personalized Medicine (PPM) is a center dedicated to translating personalized medicine into clinical practice within Partners HealthCare. One component of the PPM is the Partners Healthcare Biobank, a biorepository comprising broadly consented DNA samples linked to the Partners longitudinal EMR. In 2015, PPM joined the eMERGE Phase III network. Here we describe the elements of the eMERGE clinical center at PPM, including plans for genomic discovery using EMR phenotypes, evaluation of rare variant penetrance and pleiotropy, and a novel randomized trial of the impact of returning genetic results to patients and clinicians. View Full-Text
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Smoller, J.W.; Karlson, E.W.; Green, R.C.; Kathiresan, S.; MacArthur, D.G.; Talkowski, M.E.; Murphy, S.N.; Weiss, S.T. An eMERGE Clinical Center at Partners Personalized Medicine. J. Pers. Med. 2016, 6, 5.
Smoller JW, Karlson EW, Green RC, Kathiresan S, MacArthur DG, Talkowski ME, Murphy SN, Weiss ST. An eMERGE Clinical Center at Partners Personalized Medicine. Journal of Personalized Medicine. 2016; 6(1):5.Chicago/Turabian Style
Smoller, Jordan W.; Karlson, Elizabeth W.; Green, Robert C.; Kathiresan, Sekar; MacArthur, Daniel G.; Talkowski, Michael E.; Murphy, Shawn N.; Weiss, Scott T. 2016. "An eMERGE Clinical Center at Partners Personalized Medicine." J. Pers. Med. 6, no. 1: 5.
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