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Genomic considerations for FHIR®; eMERGE implementation lessons.

Mullai Murugan1, Lawrence J Babb2, Casey Overby Taylor3

  • 1Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.

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|April 30, 2021
PubMed
Summary
This summary is machine-generated.

The eMERGE Network developed a new Health Level Seven Fast Healthcare Interoperability Resources (HL7 FHIR) standard for clinical genetic results. This advances precision medicine by improving electronic health record integration and genetic data management.

Keywords:
Clinical decision supportClinical genomicsElectronic health record (EHR)Genetic test resultsHL7® FHIR® standardInteroperability

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Area of Science:

  • Genomics
  • Health Informatics
  • Bioinformatics

Background:

  • Structured clinical genetic data is crucial for precision medicine.
  • The eMERGE Network previously used XML for genetic results in electronic health records (EHRs).

Purpose of the Study:

  • To develop a new standardized format for clinical genomics results.
  • To improve EHR integration and genetic data management using international healthcare standards.

Main Methods:

  • Created a new standardized format based on Health Level Seven Fast Healthcare Interoperability Resources (HL7 FHIR).
  • Applied this format for representing clinical genomics results.

Main Results:

  • The new HL7 FHIR-based standard enhances the utility of FHIR for genetic data.
  • Facilitates structured representation of clinical genetic results for EHR integration.

Conclusions:

  • The developed HL7 FHIR standard advances the establishment of interoperability standards for genetic data.
  • Promotes broad adoption in current health information technology for precision medicine.