Published May 9, 2023 | Version v1
Poster Open

The impact of dedicated FAIRification stewardship guiding European Reference Networks towards making rare disease resources FAIR

Creators

  • 1. Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • 2. Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • 3. Department of Medical Informatics, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.
  • 4. Departamento de Biotecnología-Biología Vegetal, Escuela Técnica Superior de Ingeniería Agronómica, Alimentaria y de Biosistemas, Universidad Politécnica de Madrid (UPM), Madrid, Spain.
  • 5. Division of Paediatric Nephrology, Center for Paediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.
  • 6. University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Groningen, The Netherlands.

Description

The EJP RD stewards' team was established in July 2020 to support European Reference Networks (ERNs) in creating Findable, Accessible, Interoperable and Reusable (FAIR) patient registries. To track the evolving registry FAIR implementations, the steward's team collected the ERNs' reported updates in an implementation status inventory. We here analyze the progress registered to understand the impact of the team's approach on supporting ERNs.   

The team conducted two rounds of online interviews in 2020 and 2021 to collect the ERNs implementation status. Prior to the interview, they sent ERNs an inventory structured into five phases: a) data modelling; b) data collection; c) registering the registry; d) data accessibility, e) Data querying; and instructed ERNs to fill it using the terminology "Implemented", "Implementing assisted by expert", "Plans to Implement", "Needs Expert help" and "Not applicable".   

From a total of 24 ERNs, 20 completed the inventory. The results indicate an increase in the number of FAIR tools implemented from 2020 (32.6%) to 2021 (56.0%). Additionally, the percentage of tools that shifted from "Plans to implement" or "Needs expert help" to "Implemented" in 2021 were, respectively, 35.8% and 18.8%. In both years, the most significant increases in implemented tools are related to the modelling phase - 17.3% in 2020 and 29.2% in 2021 - and "making data accessible for querying" - 5.2% in 2020 to 13.2% in 2021. Out of all five stages, the tools more frequently marked as "Plans to Implement" in 2020 concerned the modelling phase (9.8%), which in 2021 decreased to 4.6%. 

Changes in staff and different people completing the inventory are limitations of this analysis, as they could result in different interpretations of categorizing the tools and, occasionally, the loss of reported evolution. Regardless, the joint approach between ERNs and Stewards appears to have resulted in more implemented tools, mainly in the modelling stage. It also allows prioritizing future efforts on accessibility and discoverability for querying, and data reuse. We expect the number of implemented tools to plateau and the tools planned for implementation or needing expert help to decrease as a result of the ERNs learning more about the options for FAIR data. 

Files

09052023_Poster_Zenodo_Impact_of_dedicated_FAIRification_Stewardship_guiding_ERNs_towards_making_Rare_disease_resources_FAIR.pdf

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Additional details

Funding

EJP RD – European Joint Programme on Rare Diseases 825575
European Commission