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

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.