Genomic considerations for FHIR®; eMERGE implementation lessons.

TitleGenomic considerations for FHIR®; eMERGE implementation lessons.
Publication TypeJournal Article
Year of Publication2021
AuthorsMurugan, M, Babb, LJ, Taylor, COverby, Rasmussen, LV, Freimuth, RR, Venner, E, Yan, F, Yi, V, Granite, SJ, Zouk, H, Aronson, SJ, Power, K, Fedotov, A, Crosslin, DR, Fasel, D, Jarvik, GP, Hakonarson, H, Bangash, H, Kullo, IJ, Connolly, JJ, Nestor, JG, Caraballo, PJ, Wei, WQ, Wiley, K, Rehm, HL, Gibbs, RA
JournalJ Biomed Inform
Date Published2021 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.

Alternate JournalJ Biomed Inform
PubMed ID33930535