Genomic considerations for FHIR®; eMERGE implementation lessons

J Biomed Inform. 2021 Jun:118:103795. doi: 10.1016/j.jbi.2021.103795. Epub 2021 Apr 28.


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.

Keywords: Clinical decision support; Clinical genomics; Electronic health record (EHR); Genetic test results; HL7® FHIR® standard; Interoperability.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Electronic Health Records*
  • Genomics
  • Health Level Seven
  • Humans
  • Medical Informatics*
  • Precision Medicine