FHIR Genomics: enabling standardization for precision medicine use cases
Gil Alterovitz, Bret S.E. Heale, James Jones, David Kreda, Fan Lin, Lei Liu, Xin Liu, Kenneth D. Mandl, David W. Poloway, Rachel Ramoni, Alex H. Wagner, Jeremy L. Warner
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.