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 J. Aronson, Kevin Power, Alex Fedotov, David R. Crosslin, David Fasel, Gail P. Jarvik, Hakon Hakonarson, Hana Bangash, Iftikhar J. Kullo, John J. ConnollyJordan G. Nestor, Pedro J. Caraballo, Wei Qi Wei, Ken Wiley, Heidi L. Rehm, Richard A. Gibbs

Research output: Contribution to journalComment/debatepeer-review


Structured representation of clinical genetic results is necessary for advancing precision medicine. The Electronic Medical Records and Genomics (eMERGE) Network's 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.

Original languageEnglish (US)
Article number103795
JournalJournal of Biomedical Informatics
StatePublished - Jun 2021


  • Clinical decision support
  • Clinical genomics
  • Electronic health record (EHR)
  • Genetic test results
  • HL7® FHIR® standard
  • Interoperability

ASJC Scopus subject areas

  • Health Informatics
  • Computer Science Applications


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