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.
Highlights
As enthusiasm for the prospects of personalized or precision medicine has grown, there has been increasing interest in capitalizing on two parallel developments
In 2014, National Human Genome ResearchInstitute (NHGRI) issued a request for applications (RFA) for Electronic Medical Records and Genomics (eMERGE) Phase III with a primary goal of facilitating implementation of genomic medicine by defining health outcomes associated with rare variants in clinically relevant genes
The eMERGE III Network has brought together academic health centers around the nation to advance the integration of electronic medical records (EMRs)-linked biorepositories and evaluate the impact of genetic information on health outcomes
Summary
As enthusiasm for the prospects of personalized or precision medicine has grown, there has been increasing interest in capitalizing on two parallel developments. The increasing integration of electronic medical records (EMRs) into medical practice has created a growing repository of longitudinal data capturing real-world clinical phenotypes. In combination, these parallel developments provide a unique engine for discovery and implementation efforts in genomic medicine [1]. In 2014, NHGRI issued a request for applications (RFA) for eMERGE Phase III with a primary goal of facilitating implementation of genomic medicine by defining health outcomes associated with rare variants in clinically relevant genes.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
