TY - JOUR
T1 - FHIR Genomics
T2 - enabling standardization for precision medicine use cases
AU - Alterovitz, Gil
AU - Heale, Bret
AU - Jones, James
AU - Kreda, David
AU - Lin, Fan
AU - Liu, Lei
AU - Liu, Xin
AU - Mandl, Kenneth D.
AU - Poloway, David W.
AU - Ramoni, Rachel
AU - Wagner, Alex
AU - Warner, Jeremy L.
N1 - Funding Information:
This work was funded in part by the SMART health IT project from the Office of the National Coordinator of Health Information Technology, the Precision Link Biobank at Boston Children’s Hospital, and U01 CA231840 from the National Institutes of Health. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. The authors would also like to thank the many members of the HL7 Clinical Genomics Work Group and its FHIR subgroup for their perspectives and contributions.
Publisher Copyright:
© 2020, The Author(s).
PY - 2020/12/1
Y1 - 2020/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85082103729&partnerID=8YFLogxK
U2 - 10.1038/s41525-020-0115-6
DO - 10.1038/s41525-020-0115-6
M3 - Article
C2 - 32194985
AN - SCOPUS:85082103729
SN - 2056-7944
VL - 5
JO - npj Genomic Medicine
JF - npj Genomic Medicine
IS - 1
M1 - 13
ER -