Document Type
Article
Publication Date
11-18-2025
Original Citation
Graefe A,
Rehburg F,
Alkarkoukly S,
Danis D,
Grönke A,
Hübner M,
Bartschke A,
Debertshäuser T,
Klopfenstein S,
Saß J,
Fleck J,
Rehberg M,
Zschüntzsch J,
Nyoungui E,
Kalashnikova T,
Murguía-Favela L,
Derfalvi B,
Wright N,
Moosa S,
Ogishima S,
Semler O,
Wiegand S,
Kühnen P,
Mungall C,
Haendel M,
Robinson P,
Thun S,
Beyan O.
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets. NPJ Genom Med. 2025;10(1):72.
JAX Source
NPJ Genom Med. 2025;10(1):72.
ISSN
2056-7944
PMID
41253795
DOI
https://doi.org/10.1038/s41525-025-00534-z
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.
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.