Domain-Specific Common Data Elements for Rare Disease Registration: Conceptual Approach of a European Joint Initiative Toward 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 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.

Scoping review of the recommendations and guidance for improving the quality of rare disease registries

“…With over 600 diverse and fragmented rare disease registries in Europe, the European Commission’s Joint Research Centre in collaboration with stakeholders took on the tremendous task of establishing standards for integration, training, and interoperability of RDR data across Europe. A core element of the EU RD Platform is the European Rare Disease Registry Infrastructure (ERDRI) [ 92 ], which consists of a directory of registries, a data repository, a pseudonymization tool and importantly the EU RD Platform comprising of a set of 16 common data elements [ 93 ] that capture the characteristics of rare disease patients such as demographic, and clinical, diagnostic, and genetic information [ 43 , 56 , 76 , 91 , 94 ].…”

Navigating the unknown: how to best ‘reflect’ standard of care in indications without a dedicated treatment pathway in health technology assessment submissions

“…However, it would facilitate the appraisal of technologies that are first-in-market for rare diseases with high unmet needs. Several ongoing efforts at national and international levels such as the European Partnership under Horizon Europe Rare Diseases [ 60 ] will provide the context to further standardize data collection processes (including common data elements) for these diseases [ 61 , 62 , 63 ]. The Critical Path Institute's Rare Disease Cures Accelerator Data Analytics Platform [ 64 ] (supported by the US FDA and the National Organization for Rare Disorders) and RARE-X [ 65 ] also represent innovative platforms focused on aggregating, curating, and integrating datasets to improve the rare disease research and development ecosystem that can provide granulated data for supporting different HTA submissions.…”

Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities

“…Strengthening global applicability: Future research directions may involve aligning NDD-CDEs with established international standards like the WHO ICF [ 21 ] and regional CDE sets used in specific healthcare systems. Additionally, assessing data dictionaries adopted by existing international initiatives focused on rare disease (RD) registries and NBS follow-up, such as the EU-RD platform [ 22 , 23 ], could inform CDE harmonization. Expanding the scoping to non-US resources would foster a more comprehensive understanding of NDD co-occurrence in NBS conditions and maximize interoperability of NBS/RD registry data across borders.…”