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

TL;DR

RareLink is a new framework that connects REDCap data to global health standards, improving data sharing for rare disease research worldwide.

Contribution

RareLink introduces a scalable, ontology-based framework for REDCap interoperability with FHIR and Phenopackets in rare disease research.

Findings

RareLink was implemented across Germany, Canada, South Africa, and Japan for registry and data analysis.

A simulated Kabuki syndrome cohort demonstrated successful data export to Phenopackets and FHIR.

RareLink supports global applicability and enhances the clinical utility of REDCap data.

Abstract

While Research Electronic Data Capture (REDCap) is widely adopted in rare disease research, its unconstrained data format often lacks native interoperability with global health standards, limiting secondary use. We developed RareLink, an open-source framework implementing our published ontology-based rare disease common data model. It enables standardised data exchange between REDCap, international registries, and downstream analysis tools by linking Global Alliance for Genomics and Health Phenopackets and Health Level 7 Fast Healthcare Interoperability Resources (FHIR) instances conforming to International Patient Summary and Genomics Reporting profiles. RareLink was developed in three phases across Germany, Canada, South Africa, and Japan for registry and data analysis purposes. We defined a simulated Kabuki syndrome cohort and demonstrated data export to Phenopackets and FHIR. RareLink can enhance the clinical utility of REDCap through its global applicability, supporting equitable rare disease research. Broader adoption and coordination with international entities are thus essential to realise its full potential.

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