.2016 Jan 20;6(1):5.

doi: 10.3390/jpm6010005.

An eMERGE Clinical Center at Partners Personalized Medicine

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. jsmoller@mgh.harvard.edu.
² Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. jsmoller@mgh.harvard.edu.
³ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. jsmoller@mgh.harvard.edu.
⁴ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. ekarlson@partners.org.
⁵ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. ekarlson@partners.org.
⁶ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. rcgreen@genetics.med.harvard.edu.
⁷ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. rcgreen@genetics.med.harvard.edu.
⁸ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. rcgreen@genetics.med.harvard.edu.
⁹ Massachusetts General Hospital, Boston, MA 02114, USA. skathiresan1@mgh.harvard.edu.
¹⁰ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. skathiresan1@mgh.harvard.edu.
¹¹ Massachusetts General Hospital, Boston, MA 02114, USA. macarthur@atgu.mgh.harvard.edu.
¹² Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. macarthur@atgu.mgh.harvard.edu.
¹³ Massachusetts General Hospital, Boston, MA 02114, USA. mtalkowski@mgh.harvard.edu.
¹⁴ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. mtalkowski@mgh.harvard.edu.
¹⁵ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. snmurphy@partners.org.
¹⁶ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. snmurphy@partners.org.
¹⁷ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. restw@channing.harvard.edu.
¹⁸ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. restw@channing.harvard.edu.

PMID:26805891
PMCID: PMC4810384
DOI: 10.3390/jpm6010005

An eMERGE Clinical Center at Partners Personalized Medicine

Jordan W Smoller et al. J Pers Med.2016.

.2016 Jan 20;6(1):5.

doi: 10.3390/jpm6010005.

Authors

Affiliations

¹ Massachusetts General Hospital, Boston, MA 02114, USA. jsmoller@mgh.harvard.edu.
² Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. jsmoller@mgh.harvard.edu.
³ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. jsmoller@mgh.harvard.edu.
⁴ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. ekarlson@partners.org.
⁵ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. ekarlson@partners.org.
⁶ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. rcgreen@genetics.med.harvard.edu.
⁷ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. rcgreen@genetics.med.harvard.edu.
⁸ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. rcgreen@genetics.med.harvard.edu.
⁹ Massachusetts General Hospital, Boston, MA 02114, USA. skathiresan1@mgh.harvard.edu.
¹⁰ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. skathiresan1@mgh.harvard.edu.
¹¹ Massachusetts General Hospital, Boston, MA 02114, USA. macarthur@atgu.mgh.harvard.edu.
¹² Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. macarthur@atgu.mgh.harvard.edu.
¹³ Massachusetts General Hospital, Boston, MA 02114, USA. mtalkowski@mgh.harvard.edu.
¹⁴ Broad Institute of MIT and Harvard, 415 Main Street, Cambridge, MA 02142, USA. mtalkowski@mgh.harvard.edu.
¹⁵ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. snmurphy@partners.org.
¹⁶ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. snmurphy@partners.org.
¹⁷ Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA. restw@channing.harvard.edu.
¹⁸ Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. restw@channing.harvard.edu.

PMID:26805891
PMCID: PMC4810384
DOI: 10.3390/jpm6010005

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.

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Figures

**Figure 1**
Design of implementation trial at the Partners eMERGE site.

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References

1. Kohane I.S. Using electronic health records to drive discovery in disease genomics. Nat. Rev. Genet. 2011;12:417–428. doi: 10.1038/nrg2999. - DOI - PubMed
1. Gottesman O., Kuivaniemi H., Tromp G., Faucett W.A., Li R., Manolio T.A., Sanderson S.C., Kannry J., Zinberg R., Basford M.A., et al. The electronic medical records and genomics (emerge) network: Past, present, and future. Genet. Med. 2013;15:761–771. doi: 10.1038/gim.2013.72. - DOI - PMC - PubMed
1. Crawford D.C., Crosslin D.R., Tromp G., Kullo I.J., Kuivaniemi H., Hayes M.G., Denny J.C., Bush W.S., Haines J.L., Roden D.M., et al. eMERGEing progress in genomics—The first seven years. Front. Genet. 2014 doi: 10.3389/fgene.2014.00184. - DOI - PMC - PubMed
1. Aronson S., Mahanta L., Ros L.L., Clark E., Babb L., Oates M., Rehm H., Lebo M. Information technology support for clinical genetic testing within an academic medical center. Partners HealthCare Personalized Medicine, Cambridge, MA, USA. J. Pers. Med. 2016 doi: 10.3390/jpm6010004. - DOI - PMC - PubMed
1. Karlson E.W., Boutin N.T., Hoffnagle A.G., Allen N.L. Building the Partners HealthCare Biobank at Partners Personalized Medicine: Informed Consent, Return of Research Results, Recruitment Lessons and Operational Considerations. J. Pers. Med. 2016 doi: 10.3390/jpm6010002. - DOI - PMC - PubMed

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An eMERGE Clinical Center at Partners Personalized Medicine

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An eMERGE Clinical Center at Partners Personalized Medicine

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