Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare...

Area of Science:

• Health Informatics
• Genomics
• Rare Disease Research

Background:

• Research Electronic Data Capture (REDCap) is widely used in rare disease research but often lacks interoperability with global health data standards.
• This limitation hinders secondary data use and comprehensive analysis of rare disease patient data.

Purpose of the Study:

• To develop and validate RareLink, an open-source framework for standardized data exchange from REDCap.
• To enable interoperability between REDCap, international registries, and downstream analysis tools using common data models.

Main Methods:

• Developed RareLink, an ontology-based common data model framework for rare diseases.
• Implemented preconfigured pipelines for semi-automatic data import/export to GA4GH Phenopackets and HL7 FHIR.
• Validated the framework through iterative development phases using diverse rare disease patient data across multiple institutions.

Main Results:

• RareLink successfully enables standardized data exchange between REDCap and global health standards (Phenopackets, FHIR).
• Demonstrated data export for a simulated Kabuki syndrome cohort, validating the framework's utility.
• Framework development incorporated continuous feedback, improving usability and outputs.

Conclusions:

• RareLink enhances the clinical utility of REDCap by enabling structured data analysis and interoperability.
• The open-source framework supports equitable rare disease research and aims to improve patient care globally.
• Broader adoption and coordination with standards bodies are crucial for RareLink's full potential.