Representing NIH Genetic Test Registry Data in the FHIR Genomic Study Resource

Area of Science:

• Bioinformatics
• Genomic Data Management
• Health Informatics

Background:

• The National Institute of Health (NIH) Genetic Testing Registry (GTR) is a valuable resource for genetic testing information.
• Standardizing genetic testing data is crucial for interoperability and accessibility.
• The Health Level Seven (HL7) Fast Healthcare Interoperability Resources (FHIR) standard offers a framework for healthcare data exchange.

Purpose of the Study:

• To map a subset of NIH GTR data to the HL7 FHIR Genomic Study resource.
• To develop a web application using open-source tools for this data mapping.
• To demonstrate the feasibility of representing GTR data using the FHIR Genomic Study resource.

Main Methods:

• Data mapping of a subset of GTR records to the FHIR Genomic Study resource.
• Development of a web application utilizing open-source tools for implementation.
• Validation of the FHIR Genomic Study resource design.

Main Results:

• Successful mapping of GTR data to the FHIR Genomic Study resource.
• A functional web application was developed to provide GTR test records as Genomic Study resources.
• Demonstrated feasibility of using open-source tools and FHIR for genetic testing data.

Conclusions:

• The FHIR Genomic Study resource is a viable method for representing publicly available genetic testing information.
• The study validates the design of the Genomic Study resource.
• Two enhancements are proposed to further support additional data elements within the resource.