Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries

Orphanet Journal of Rare Diseases

Research

Peter A. C. ’t Hoen¹  Bruna dos Santos Vieira²  Alberto Cámara³  Mark D. Wilkinson³  Annika Jacobsen⁴  Marco Roos⁴  César H. Bernabé⁴  Shuxin Zhang⁵  Nirupama Benis⁵  Ronald Cornet⁵  Franz Schaefer⁶  Clémence M. A. Le Cornec⁶  K. Joeri van der Velde⁷  Morris A. Swertz⁷  Haitham Abaza⁸ 

[1] Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands;Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands;Department of Medical Imaging, Radboud Institute for Health Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands;Departamento de Biotecnología-Biología Vegetal, Escuela Técnica Superior de Ingeniería Agronómica, Alimentaria y de Biosistemas, Centro de Biotecnología y Genómica de Plantas (CBGP, UPM-INIA), Universidad Politécnica de Madrid (UPM) - Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA), Madrid, Spain;Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands;Department of Medical Informatics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands;Amsterdam Public Health, Methodology and Global Health, Amsterdam, The Netherlands;Division of Paediatric Nephrology, Centre for Paediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany;Genomics Coordination Center, University of Groningen and University Medical Center, Groningen, The Netherlands;Medical Informatics Group (MIG), University Hospital Frankfurt, Frankfurt, Germany;

关键词: FAIR;    Stewardship;    Rare disease;    Patient registry;    Data steward;   

DOI  :  10.1186/s13023-022-02558-5

 received in 2022-04-21, accepted in 2022-10-02,  发布年份 2022

来源: Springer

【 摘 要 】

IntroductionRare disease patient data are typically sensitive, present in multiple registries controlled by different custodians, and non-interoperable. Making these data Findable, Accessible, Interoperable, and Reusable (FAIR) for humans and machines at source enables federated discovery and analysis across data custodians. This facilitates accurate diagnosis, optimal clinical management, and personalised treatments. In Europe, twenty-four European Reference Networks (ERNs) work on rare disease registries in different clinical domains. The process and the implementation choices for making data FAIR (‘FAIRification’) differ among ERN registries. For example, registries use different software systems and are subject to different legal regulations. To support the ERNs in making informed decisions and to harmonise FAIRification, the FAIRification steward team was established to work as liaisons between ERNs and researchers from the European Joint Programme on Rare Diseases.ResultsThe FAIRification steward team inventoried the FAIRification challenges of the ERN registries and proposed solutions collectively with involved stakeholders to address them. Ninety-eight FAIRification challenges from 24 ERNs’ registries were collected and categorised into “training” (31), “community” (9), “modelling” (12), “implementation” (26), and “legal” (20). After curating and aggregating highly similar challenges, 41 unique FAIRification challenges remained. The two categories with the most challenges were “training” (15) and “implementation” (9), followed by “community” (7), and then “modelling” (5) and “legal” (5). To address all challenges, eleven types of solutions were proposed. Among them, the provision of guidelines and the organisation of training activities resolved the “training” challenges, which ranged from less-technical “coffee-rounds” to technical workshops, from informal FAIR Games to formal hackathons. Obtaining implementation support from technical experts was the solution type for tackling the “implementation” challenges.ConclusionThis work shows that a dedicated team of FAIR data stewards is an asset for harmonising the various processes of making data FAIR in a large organisation with multiple stakeholders. Additionally, multi-levelled training activities are required to accommodate the diverse needs of the ERNs. Finally, the lessons learned from the experience of the FAIRification steward team described in this paper may help to increase FAIR awareness and provide insights into FAIRification challenges and solutions of rare disease registries.

【 授权许可】

CC BY   
© The Author(s) 2022

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