Genomics-Supporting Terminologies (PSS-2648)

Project Objective

The proposed project aims to systematically identify, evaluate, and transform established genomics terminologies and ontologies from trusted and authoritative sources into formally defined FHIR CodeSystem resources. By doing so, this initiative will provide a standardized, reusable foundation for FHIR genomics artifacts and implementation guides, reducing implementation burden and enhancing semantic interoperability within the genomics ecosystem.

Scope of Work

• Identify and select relevant genomics terminologies and ontologies critical to clinical and research genomic workflows from vetted repositories such as NIH-NCBI RefSeq, ClinVar, Sequence Ontology (SO), Human Phenotype Ontology (HPO).
• Analyze and adapt these terminologies into the FHIR CodeSystem resource structures, maintaining alignment with source semantics and versioning principles.
• Develop and publish FHIR CodeSystems for these terminologies with proper governance and lifecycle management.
• Collaborate with downstream FHIR genomics specification teams to integrate these CodeSystems into artifacts such as:
• Molecular Definition resource
• Genomic Study resource
• Genomics Reporting Implementation Guide
• Molecular Definition Data Types Implementation Guide
• Document usage guidance and best practices for implementers using these CodeSystems to facilitate adoption and consistency.

Out of Scope

• Creation of new terminologies or ontologies; only existing authoritative sources will be modeled.
• Implementation of clinical genomics use cases beyond the boundary of terminology representation and integration.

Deliverables

• FHIR CodeSystem resource definitions representing key genomics terminologies and ontologies.
• Documentation detailing source mappings, versioning, and implementation guidance.
• Updated core specifications and genomics implementation guides to incorporate the new standardized CodeSystems.
• Collaboration and liaison reports with relevant HL7 Work Groups and genomics standards bodies.

Benefits

• Reduced rework and customization by implementers of genomics FHIR artifacts.
• Enhanced interoperability and data consistency across diverse health IT systems handling genomic information.
• A foundation to support richer genomics-enabled clinical decision making and research data exchange.
• Increased alignment of the HL7 FHIR genomics ecosystem with recognized terminologies fostering external harmonization.

This work was initiated and spearheaded by {}Kevin Powe{}r, and hosted in the following GitHub repository: [https://github.com/sirkyp/fhir-genomicsterminology]