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Genomic considerations for FHIR®; eMERGE implementation lessons

2021; Elsevier BV; Volume: 118; Linguagem: Inglês

10.1016/j.jbi.2021.103795

1532-0480

Mullai Murugan, Lawrence 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 Fasel, Gail P. Jarvik, Hákon Hákonarson, Hana Bangash, Iftikhar J. Kullo, John J. Connolly, Jordan G. Nestor, Pedro J. Caraballo, Wei‐Qi Wei, Ken Wiley, Heidi L. Rehm, Richard A. Gibbs,

Cancer Genomics and Diagnostics

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.