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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7080712/
https://www.ncbi.nlm.nih.gov/pubmed/32194985
http://dx.doi.org/10.1038/s41525-020-0115-6
Descripción
Sumario: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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