FHIR Genomics: enabling standardization for precision medicine use cases

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 ava...

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Veröffentlicht in:Npj genomic medicine 2020-03, Vol.5 (1), p.13-13, Article 13
Hauptverfasser: Alterovitz, Gil, Heale, Bret, Jones, James, Kreda, David, Lin, Fan, Liu, Lei, Liu, Xin, Mandl, Kenneth D., Poloway, David W., Ramoni, Rachel, Wagner, Alex, Warner, Jeremy L.
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Sprache:eng
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Zusammenfassung: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.
ISSN:2056-7944
2056-7944
DOI:10.1038/s41525-020-0115-6