Genomic Considerations for FHIR; eMERGE Implementation Lessons

Mullai Murugan; Lawrence J. Babb; Casey Overby Taylor; Luke V. Rasmussen; Robert R. Freimuth; Eric Venner; Fei Yan; Victoria Yi; Stephen J. Granite; Hana Zouk; Samuel Aronson; Kevin Power; Alex Fedotov; David R. Crosslin; David A. Fasel; Gail Pairitz Jarvik; Hakon H. Hakonarson; Hana Bangash; Iftikhar J. Kullo; John J. Connolly; Jordan Gabriela Nestor; Pedro J. Caraballo; Wei‐Qi Wei; Ken Wiley; Heidi L. Rehm; Richard A. Gibbs

doi:10.1016/j.jbi.2021.103795

GenomicsJournal of Biomedical InformaticsApr 28, 2021

Peer-reviewed journal article

Genomic Considerations for FHIR; eMERGE Implementation Lessons

Mullai Murugan iD, Lawrence J. Babb iD, Casey Overby Taylor iD, Luke V. Rasmussen iD, Robert R. Freimuth iD, Eric Venner iD, Fei Yan, Victoria Yi iD, Stephen J. Granite iD, Hana Zouk iD, Samuel Aronson iD, Kevin Power, Alex Fedotov, David R. Crosslin iD, David A. Fasel iD, Gail Pairitz Jarvik iD, Hakon H. Hakonarson iD, Hana Bangash iD, Iftikhar J. Kullo iD, John J. Connolly iD, Jordan Gabriela Nestor iD, Pedro J. Caraballo iD, Wei‐Qi Wei iD, Ken Wiley, Heidi L. Rehm iD, Richard A. Gibbs iD

Abstract

Structured representation of clinical genetic results is necessary for advancing precision medicine. The Electronic Medical Records and Genomics (eMERGE) Networks Phase III program initially used a commercially developed XML message format for standardized and structured representation of genetic results for electronic health record (EHR) integration. In a desire to move towards a standard representation, the network created a new standardized format based upon Health Level Seven Fast Healthcare Interoperability Resources (HL7 FHIR), to represent clinical genomics results. These new standards improve the utility of HL7 FHIR as an international healthcare interoperability standard for management of genetic data from patients. This work advances the establishment of standards that are being designed for broad adoption in the current health information technology landscape.

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