An eMERGE Clinical Center at Partners Personalized Medicine

Journal of Personalized Medicine
Jordan W SmollerScott T Weiss

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.

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Citations

Mar 2, 2016·Journal of Personalized Medicine·Scott T Weiss, Meini Sumbada Shin
Sep 24, 2016·Journal of Personalized Medicine·Scott T Weiss
Mar 17, 2016·EBioMedicine·Marinka Twilt
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Jun 9, 2021·Nature Medicine·Seyedeh M ZekavatPradeep Natarajan

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Methods Mentioned

BETA
genotyping
feature extraction
exome sequencing

Software Mentioned

SQL
Informatics for Integrating Biology and the Bedside ( i2b2 ) t...
GeneInsight Suite
GeneInsight
PheWAS
Medscape
eMERGE

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