An eMERGE Clinical Center at Partners Personalized Medicine

Jordan W Smoller; Elizabeth W Karlson; Robert C Green; Sekar Kathiresan; Daniel G MacArthur; Michael E Talkowski; Shawn N Murphy; Scott T Weiss

doi:10.3390/jpm6010005

An eMERGE Clinical Center at Partners Personalized Medicine

J Pers Med. 2016 Jan 20;6(1):5. doi: 10.3390/jpm6010005.

Authors

Jordan W Smoller^{1

2

3}, Elizabeth W Karlson^{4

5}, Robert C Green^{6

7

8}, Sekar Kathiresan^{9

10}, Daniel G MacArthur^{11

12}, Michael E Talkowski^{13

14}, Shawn N Murphy^{15

16}, Scott T Weiss^{17

18}

Affiliations

¹ Massachusetts General Hospital, Boston, MA 02114, USA. [email protected].
² Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. [email protected].
³ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. [email protected].
⁴ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. [email protected].
⁵ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. [email protected].
⁶ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. [email protected].
⁷ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. [email protected].
⁸ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. [email protected].
⁹ Massachusetts General Hospital, Boston, MA 02114, USA. [email protected].
¹⁰ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. [email protected].
¹¹ Massachusetts General Hospital, Boston, MA 02114, USA. [email protected].
¹² Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. [email protected].
¹³ Massachusetts General Hospital, Boston, MA 02114, USA. [email protected].
¹⁴ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. [email protected].
¹⁵ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. [email protected].
¹⁶ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. [email protected].
¹⁷ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. [email protected].
¹⁸ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. [email protected].

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.

Keywords: Partners Biobank; Partners Personalized Medicine; biorepository; eMERGE; electronic medical records; genomics; personalized medicine; precision medicine.

Grants and funding

U01 HG008685/HG/NHGRI NIH HHS/United States