FHIR Genomics: enabling standardization for precision medicine use cases

Gil Alterovitz, Bret Heale, James Jones, David Kreda, Fan Lin, Lei Liu, Xin Liu, Kenneth D. Mandl, David W. Poloway, Rachel Ramoni, Alex Wagner, Jeremy L. Warner

Research output: Contribution to journalArticle

1 Scopus citations

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.

Original languageEnglish
Article number13
Journalnpj Genomic Medicine
Volume5
Issue number1
DOIs
StatePublished - Dec 1 2020

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    Alterovitz, G., Heale, B., Jones, J., Kreda, D., Lin, F., Liu, L., Liu, X., Mandl, K. D., Poloway, D. W., Ramoni, R., Wagner, A., & Warner, J. L. (2020). FHIR Genomics: enabling standardization for precision medicine use cases. npj Genomic Medicine, 5(1), [13]. https://doi.org/10.1038/s41525-020-0115-6