FHIR Genomics: enabling standardization for precision medicine use cases

NPJ Genom Med. 2020 Mar 18:5:13. doi: 10.1038/s41525-020-0115-6. eCollection 2020.

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.

Keywords: Clinical genetics; Data processing; Genomics; Health policy; High-throughput screening.