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<p>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 <i>RareLink</i>, 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.</p>

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年11月18日

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  • Adam S. L. Graefe,
  • Filip Rehburg,
  • Samer Alkarkoukly,
  • Daniel Danis,
  • Ana Grönke,
  • Miriam R. Hübner,
  • Alexander Bartschke,
  • Thomas Debertshäuser,
  • Sophie A. I. Klopfenstein,
  • Julian Saß,
  • Julia Fleck,
  • Mirko Rehberg,
  • Jana Zschüntzsch,
  • Elisabeth F. Nyoungui,
  • Tatiana Kalashnikova,
  • Luis Murguía-Favela,
  • Beata Derfalvi,
  • Nicola A. M. Wright,
  • Shahida Moosa,
  • Soichi Ogishima,
  • Oliver Semler,
  • Susanna Wiegand,
  • Peter Kühnen,
  • Christopher J. Mungall,
  • Melissa A. Haendel,
  • Peter N. Robinson,
  • Sylvia Thun,
  • Oya Beyan

摘要

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.