RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR...

Area of Science:

• Medical Informatics
• Genomics
• Rare Disease Research

Background:

• Research Electronic Data Capture (REDCap) is widely used in rare disease research but lacks interoperability.
• Unconstrained data formats in REDCap limit the secondary use of valuable research data.
• Global health standards are crucial for harmonizing rare disease data.

Purpose of the Study:

• To develop RareLink, an open-source framework for standardized data exchange.
• To enable interoperability between REDCap and global health standards like Phenopackets and FHIR.
• To enhance the secondary use of rare disease data and support equitable research.

Main Methods:

• Developed RareLink, an ontology-based rare disease common data model framework.
• Implemented standardized data exchange linking REDCap with Global Alliance for Genomics and Health Phenopackets and HL7 FHIR.
• Conducted phased development across Germany, Canada, South Africa, and Japan.

Main Results:

• Demonstrated successful data export from a simulated Kabuki syndrome cohort to Phenopackets and FHIR.
• Established a framework for standardized data exchange between REDCap and international registries.
• Showcased the global applicability of RareLink in rare disease research.

Conclusions:

• RareLink enhances the clinical utility of REDCap by enabling standardized data exchange with global health standards.
• The framework supports equitable rare disease research through improved data interoperability.
• Broader adoption and international coordination are essential for RareLink's full potential.