FHIR Genomics: enabling standardization for precision medicine use cases.

Publication date: Feb 12, 2019

The development of Fast Healthcare Interoperability Resources (FHIR) Genomics, a feasible and efficient method for exchanging complex clinical genomic data and interpretations, is described. FHIR Genomics is a subset of the emerging Health Level 7 FHIR standard and targets data from increasingly available technologies such as next-generation sequencing. Much care and integration of feedback have been taken to ease implementation, facilitate wide-scale interoperability, and enable modern app development toward a complete precision medicine standard. A new use case, the integration of the Variant Interpretation for Cancer Consortium (VICC) “meta-knowledgebase” into a third-party application, is described.

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Alterovitz, G., Heale, B., Jones, J., Kreda, D., Lin, F., Liu, L., Liu, X., Mandl, K.D., Poloway, D.W., Ramoni, R., Wagner, A., and Warner, J.L. FHIR Genomics: enabling standardization for precision medicine use cases. 06544. 2019 NPJ Genom Med (5):

Concepts Keywords
Interoperability JSON
Sequencing Genomics


Type Source Name
disease MESH development
disease MESH Cancer
disease MESH community
drug DRUGBANK Coenzyme M
drug DRUGBANK Alpha-1-proteinase inhibitor
disease MESH separation
disease MESH Pathology
disease MESH vasculitis


Original Article

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