Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example
Year: 2018
Type: article
Abstract: The eMERGE Network is establishing methods for electronic transmittal of patient genetic test results from laboratories to healthcare providers across organizational boundaries. We surveyed the capabilities and needs of different network participants, established a common transfer format, and implemented transfer mechanisms based on this format. The interfaces we created are examples of the connectivity that must be instantiated before electronic genetic and genomic clinical decision support can be effectively built at the point of care. This work serves as a case example for both standards bodies and other organizations working to build the infrastructure required to provide better electronic clinical decision support for clinicians.
DOI: 10.1093/jamia/ocy051
Authors: Samuel Aronson, Lawrence Babb, Darren Ames, Richard A Gibbs, Eric Venner, John J Connelly, Keith Marsolo, Chunhua Weng, Marc S Williams, Andrea L Hartzler, Wayne H Liang, James D Ralston, Emily Beth Devine, Shawn Murphy, Christopher G Chute, Pedro J Caraballo, Iftikhar J Kullo, Robert R Freimuth, Luke V Rasmussen, Firas H Wehbe, Josh F Peterson, Jamie R Robinson, Ken Wiley, Casey Overby Taylor, eMERGE Network EHRI Working Group
Institutions: DNAnexus (United States), Baylor College of Medicine, Children's Hospital of Philadelphia, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Columbia University, Geisinger Health System, Kaiser Permanente Washington Health Research Institute, University of Washington, University of Alabama at Birmingham, Johns Hopkins University, Mayo Clinic, Northwestern University, Vanderbilt University Medical Center, National Human Genome Research Institute
Language: English
Subfield: Health Information Management
Field: Health Professions
Domain: Health Sciences
Open Access status: green
Funders: Mayo Clinic, Brigham and Women's Hospital, Children's Hospital of Philadelphia, Northwestern University, Baylor College of Medicine, Vanderbilt University Medical Center, Kaiser Permanente Washington Health Research Institute, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, U.S. National Library of Medicine
Awards: EHR-based Genomic Discovery and Implementation, G1423781327, G2223568566, G2327766872, G2597118879, G2978603772, Better Outcomes for Children: Promoting Excellence in Healthcare Genomics to Inform Policy, G4109850255, G4318545834, G4333521878, G4408998969, G5198933205, G534326557, G6100683030, G6790783885, G7304741505, G731149954, G7446853542, G8618783052, DNA Sequencing Support for the eMERGE Network, G8956705605, Vanderbilt Biomedical Informatics Training Program
OpenAlex ID: W2805187276