Genomic Considerations for FHIR; eMERGE Implementation Lessons
Lawrence J. Babb,
Casey Overby Taylor,
Luke V Rasmussen,
Robert R Freimuth,
Stephen J. Granite,
Samuel J. Aronson,
David R Crosslin,
Gail P Jarvik,
Iftikhar J Kullo,
John J Connolly,
Jordan G. Nestor,
Pedro J. Caraballo,
Heidi L. Rehm,
Richard A. Gibbs
Posted 01 Feb 2021
bioRxiv DOI: 10.1101/2021.01.31.429037
Posted 01 Feb 2021
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.
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