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FHIR Genomics: enabling standardization for precision medicine use cases.

ABSTRACT: 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.

SUBMITTER: Alterovitz G

PROVIDER: S-EPMC7080712 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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FHIR Genomics: enabling standardization for precision medicine use cases.

Alterovitz Gil G Heale Bret B Jones James J Kreda David D Lin Fan F Liu Lei L Liu Xin X Mandl Kenneth D KD Poloway David W DW Ramoni Rachel R Wagner Alex A Warner Jeremy L JL

NPJ genomic medicine 20200318

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 deve ...[more]

PMID: 32194985

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