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J. Pers. Med. 2016, 6(1), 5; doi:10.3390/jpm6010005

An eMERGE Clinical Center at Partners Personalized Medicine

1
Massachusetts General Hospital, Boston, MA 02114, USA
2
Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA
3
Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA
4
Brigham and Women’s Hospital, 75 Francis Street, Boston, MA 02115, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Stephen B. Liggett
Received: 21 October 2015 / Revised: 12 January 2016 / Accepted: 13 January 2016 / Published: 20 January 2016
(This article belongs to the Special Issue Implementing Personalized Medicine in a Large Health Care System)
View Full-Text   |   Download PDF [442 KB, uploaded 20 January 2016]   |  

Abstract

The 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
Keywords: Partners Personalized Medicine; personalized medicine; eMERGE; Partners Biobank; biorepository; precision medicine; electronic medical records; genomics Partners Personalized Medicine; personalized medicine; eMERGE; Partners Biobank; biorepository; precision medicine; electronic medical records; genomics
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

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.

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