Domain-Specific Common Data Elements for Rare Disease Registration: Conceptual Approach of a European Joint Initiative Toward Semantic Interoperability in Rare Disease Research

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). Objectives: 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 ones. Post-conference, a 3-phase plan for defining 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.

ABAZA Haitham;  KADIOGLU Dennis;  MARTIN Simona;  PAPADOPOULOU Andri;  DOS SANTOS VIERA Bruna;  SCHAEFER Franz;  STORF Holger; 

2022-11-28

JMIR PUBLICATIONS, INC

JRC125265

2291-9694 (online),   

https://medinform.jmir.org/2022/5/e32158,    https://publications.jrc.ec.europa.eu/repository/handle/JRC125265,   

10.2196/32158 (online),