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Updated: Dec 25, 2025
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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FHIR Genomics: enabling standardization for precision medicine use cases
Gil Alterovitz1,2, Bret Heale3, James Jones1
11Computational Health Informatics Program, Boston Children's Hospital, Boston, MA USA.
NPJ Genomic Medicine
|March 21, 2020
Summary
Fast Healthcare Interoperability Resources (FHIR) Genomics offers an efficient way to exchange clinical genomic data. This standard enables precision medicine by facilitating interoperability and modern app development.
Area of Science:
- Genomics and Health Informatics
Background:
- Clinical genomic data exchange is complex.
- Emerging technologies like next-generation sequencing generate vast amounts of data.
- A standardized method is needed for efficient data sharing and interpretation.
Purpose of the Study:
- To describe the development of Fast Healthcare Interoperability Resources (FHIR) Genomics.
- To highlight its role in facilitating the exchange of clinical genomic data.
- To showcase its application in precision medicine and app development.
Main Methods:
- FHIR Genomics is presented as a subset of the Health Level 7 FHIR standard.
- Focus on ease of implementation and feedback integration.
- Demonstration through a use case integrating the Variant Interpretation for Cancer Consortium (VICC) meta-knowledgebase.
Main Results:
- FHIR Genomics provides a feasible and efficient method for data exchange.
- It supports interoperability for diverse genomic data sources.
- Enables the development of modern applications for precision medicine.
Conclusions:
- FHIR Genomics is a crucial development for advancing precision medicine.
- It simplifies the integration and utilization of complex genomic information.
- Facilitates broader adoption and application of genomic data in healthcare.
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