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Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration.

Robert H Dolin1, Bret S E Heale2, Gil Alterovitz3,4

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Journal of the American Medical Informatics Association : JAMIA
|December 22, 2022
PubMed
Summary
This summary is machine-generated.

New FHIR Genomics Operations standardize molecular data for electronic health records (EHRs), simplifying precision medicine application development. This integration accelerates the use of genomic data for personalized patient care at scale.

Keywords:
HL7 FHIRapplication programming interfaceclinical decision supportclinical genomicselectronic health record

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Area of Science:

  • Genomics
  • Bioinformatics
  • Health Informatics

Background:

  • Integrating complex genomic data into clinical workflows is challenging.
  • Existing data formats are often non-standardized, hindering application development.
  • Clinicians need effective strategies for individualized management based on molecular data.

Purpose of the Study:

  • To develop a new paradigm for genomics-electronic health record (EHR) integration.
  • To create standardized FHIR Genomics Operations to encapsulate molecular data complexity.
  • To enable precision medicine solution developers to focus on application building.

Main Methods:

  • Developed a suite of standardized FHIR Genomics Operations.
  • Encapsulated genomics data repositories behind a uniform interface.
  • Normalized redundant data representations within a FHIR framework.

Main Results:

  • Fifteen FHIR Genomics Operations have been developed.
  • Operations support diverse clinical scenarios including variant discovery and clinical trial matching.
  • Maturity is being advanced through HL7 processes, connectathons, and pilots.

Conclusions:

  • Standardized APIs for genomic data accelerate integration and application development.
  • This approach simplifies the use of vast, dynamic genomic data for precision care.
  • Facilitates broader application of omics data for scalable, personalized medicine.