title: An eMERGE Clinical Center at Partners Personalized Medicine.
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.
authors.affiliation: Massachusetts General Hospital, Boston, MA 02114, USA. jsmoller@mgh.harvard.edu.|Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. jsmoller@mgh.harvard.edu.|Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. jsmoller@mgh.harvard.edu.
authors.forename: Jordan W
authors.initials: JW
authors.lastname: Smoller
authors.affiliation: Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. ekarlson@partners.org.|Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. ekarlson@partners.org.
authors.forename: Elizabeth W
authors.initials: EW
authors.lastname: Karlson
authors.affiliation: Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. rcgreen@genetics.med.harvard.edu.|Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. rcgreen@genetics.med.harvard.edu.|Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. rcgreen@genetics.med.harvard.edu.
authors.forename: Robert C
authors.initials: RC
authors.lastname: Green
authors.affiliation: Massachusetts General Hospital, Boston, MA 02114, USA. skathiresan1@mgh.harvard.edu.|Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. skathiresan1@mgh.harvard.edu.
authors.forename: Sekar
authors.initials: S
authors.lastname: Kathiresan
authors.affiliation: Massachusetts General Hospital, Boston, MA 02114, USA. macarthur@atgu.mgh.harvard.edu.|Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. macarthur@atgu.mgh.harvard.edu.
authors.forename: Daniel G
authors.initials: DG
authors.lastname: MacArthur
authors.affiliation: Massachusetts General Hospital, Boston, MA 02114, USA. mtalkowski@mgh.harvard.edu.|Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. mtalkowski@mgh.harvard.edu.
authors.forename: Michael E
authors.initials: ME
authors.lastname: Talkowski
authors.affiliation: Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. snmurphy@partners.org.|Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. snmurphy@partners.org.
authors.forename: Shawn N
authors.initials: SN
authors.lastname: Murphy
authors.affiliation: Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. restw@channing.harvard.edu.|Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. restw@channing.harvard.edu.
authors.forename: Scott T
authors.initials: ST
authors.lastname: Weiss
keywords: Partners Biobank; Partners Personalized Medicine; biorepository; eMERGE; electronic medical records; genomics; personalized medicine; precision medicine