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.

Open Access PDF

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
Genomics

Semantics

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

Similar

Original Article

Leave a Comment

Your email address will not be published. Required fields are marked *