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. 2022 May 20;10(5):e32158.
doi: 10.2196/32158.

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

Haitham Abaza  1 , Dennis Kadioglu  1 , Simona Martin  2 , Andri Papadopoulou  2 , Bruna Dos Santos Vieira  3   4 , Franz Schaefer  5 , Holger Storf  1
Affiliations

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

Haitham Abaza et al. JMIR Med Inform. .

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 Joint Research Center and its 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 was to extend the set of common data elements (CDEs) for RD registration by defining domain-specific CDEs (DCDEs).

Objective: This study aims to introduce and assess the feasibility of the concept of a joint initiative that unites the efforts of the European Platform on Rare Disease Registration Platform, ERNs, and European Joint Programme on Rare Diseases toward extending RD CDEs, aiming to improve the semantic interoperability of RD registries and enhance the quality of RD research.

Methods: A joint conference was conducted 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. After the conference, a 3-phase plan for defining and modeling DCDEs was drafted. Expected outcomes included harmonized lists of DCDEs.

Results: All ERNs attended the conference. The survey results indicated that genetic, congenital, pediatric, and cancer were the most overlapping domains. Accordingly, the proposed list was reorganized into 10 domain groups and recommunicated to all ERNs, aiming at a smaller number of domains.

Conclusions: The approach described for defining DCDEs appears to be feasible. However, it remains dynamic and should be repeated regularly based on arising research needs.

Keywords: EJP RD; ERNs; EU RD Platform; FAIRification; common data elements; data collection; data discoverability; health and research platforms; health domains; health infrastructure; health platforms; health registries; industry; medical informatics; rare diseases; semantic interoperability; standardization.

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Conflict of interest statement

Conflicts of Interest: None declared.

Figures

Figure 1
Figure 1
Domain-specific common data elements (DCDEs) classification and domain overlaps. CDE: common data element; RD: rare disease.
Figure 2
Figure 2
Classification of registries and their data elements. CDE: common data element; DCDE: domain-specific common data element; RDE: registry-specific data element.
Figure 3
Figure 3
Technical vision. CDE: common data element; EJP RD: European Joint Programme on Rare Diseases; ERDRI: European Rare Disease Registry Infrastructure; ERN: European Reference Network; EU RD Platform: European Platform on Rare Disease Registration; MDR: Metadata Repository.
Figure 4
Figure 4
Proposed scoring system and example. DCDE: domain-specific common data element; ERN: European Reference Network.
See this image and copyright information in PMC

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