Accepted for/Published in: JMIR Medical Informatics
Date Submitted: Jul 16, 2021
Date Accepted: Jan 2, 2022
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Introducing Domain-specific Common Data Elements for Rare Disease Registration: A Joint Initiative towards improving Semantic Interoperability in Rare Disease Research
ABSTRACT
Background:
With hundreds of registries across Europe, rare diseases (RDs) suffer from fragmented knowledge, expertise, and research. A joint initiative of the European Commission’s Joint Research Center / European Platform on Rare Disease Registration (EU RD Platform), the European Reference Networks (ERNs), and the European Joint Programme on Rare Diseases (EJP RD) was launched in 2020. The purpose is to extend the Set of Common Data Elements (CDEs) for RD registration by defining Domain-specific CDEs (DCDEs).
Objective:
To unite the efforts of the EU RD Platform, ERNs, and EJP RD towards improving semantic interoperability of RD registries and enhancing the quality of RD research.
Methods:
A joint conference took place in December 2020. All 24 ERNs were invited. Before the conference, a survey was communicated to all ERNs, proposing 18 medical domains and requesting them to identify highly relevant choices. Post-conference, a 3-phase plan for defining and modelling DCDEs was drafted. Expected outcomes include harmonized DCDEs for every identified ERN domain.
Results:
All ERNs attended the conference. The survey results indicated the genetic, congenital, paediatric, and cancer as the most overlapping domains. The proposed domains were accordingly reorganized into 10 domain groups and the survey answers were used to identify relevant ERNs. The list was recommunicated to all ERNs to validate their domain groups and appoint appropriate curation team members.
Conclusions:
DCDEs are powerful tools for increasing semantic interoperability of RD registries. This collaboration shall integrate various overarching activities and prevent duplicated efforts. DCDEs will be published on the EU RD Platform and added to its Central Metadata Repository. EJP RD’s semantic data model shall also be extended to include DCDEs. The dynamic process of defining DCDEs should be repeated regularly based on arising research needs. The ongoing objective is to incorporate both CDEs and DCDEs in all new RD registries.
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