Genomic considerations for FHIR®; eMERGE implementation lessons

[Display omitted] •Develop a computable and standardized reporting specification for clinical genomics.•Use open standards such as Health Level Seven Fast Healthcare Interoperability Resources (FHIR®).•Demonstrate feasibility of electronic health record integration for genomics.•Highlight challenges...

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Bibliographic Details
Published in:Journal of biomedical informatics 2021-06, Vol.118, p.103795-103795, Article 103795
Main Authors: Murugan, Mullai, Babb, Lawrence J., Overby Taylor, Casey, Rasmussen, Luke V., Freimuth, Robert R., Venner, Eric, Yan, Fei, Yi, Victoria, Granite, Stephen J., Zouk, Hana, Aronson, Samuel J., Power, Kevin, Fedotov, Alex, Crosslin, David R., Fasel, David, Jarvik, Gail P., Hakonarson, Hakon, Bangash, Hana, Kullo, Iftikhar J., Connolly, John J., Nestor, Jordan G., Caraballo, Pedro J., Wei, WeiQi, Wiley, Ken, Rehm, Heidi L., Gibbs, Richard A.
Format: Article
Language:English
Subjects:
Clinical decision support
Clinical genomics
Electronic health record (EHR)
Electronic Health Records
Genetic test results
Genomics
Health Level Seven
HL7® FHIR® standard
Humans
Interoperability
Medical Informatics
Precision Medicine
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Summary:[Display omitted] •Develop a computable and standardized reporting specification for clinical genomics.•Use open standards such as Health Level Seven Fast Healthcare Interoperability Resources (FHIR®).•Demonstrate feasibility of electronic health record integration for genomics.•Highlight challenges and lessons learned from using the FHIR® standard for genomics. 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.
ISSN:1532-0464
1532-0480
1532-0480
DOI:10.1016/j.jbi.2021.103795