The de novo FAIRification process of a registry for vascular anomalies

Orphanet Journal of Rare Diseases

Derk L. Arts¹  Peter A. C. ‘t Hoen²  Annika Jacobsen³  Marco Roos³  Rajaram Kaliyaperumal³  Leo Schultze Kool⁴  Karlijn H. J. Groenen⁴  Bruna dos Santos Vieira⁵  Ronald Cornet⁶  Martijn G. Kersloot⁷  Esther van Enckevort⁸ 

[1] Castor EDC, Amsterdam, The Netherlands;Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands;Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands;Department of Medical Imaging, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands;Department of Medical Imaging, Radboud Institute for Health 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 Informatics, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands;Department of Medical Informatics, Amsterdam Public Health Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands;Castor EDC, Amsterdam, The Netherlands;University Medical Center Groningen, Department of Genetics and Genomic Coordination Center, University of Groningen, Groningen, The Netherlands;

关键词: Rare diseases;    Patient registry;    Vascular anomalies;    FAIR data;    FAIRification process;    Interoperability;   

DOI  :  10.1186/s13023-021-02004-y

来源: Springer

【 摘 要 】

BackgroundPatient data registries that are FAIR—Findable, Accessible, Interoperable, and Reusable for humans and computers—facilitate research across multiple resources. This is particularly relevant to rare diseases, where data often are scarce and scattered. Specific research questions can be asked across FAIR rare disease registries and other FAIR resources without physically combining the data. Further, FAIR implies well-defined, transparent access conditions, which supports making sensitive data as open as possible and as closed as necessary.ResultsWe successfully developed and implemented a process of making a rare disease registry for vascular anomalies FAIR from its conception—de novo. Here, we describe the five phases of this process in detail: (i) pre-FAIRification, (ii) facilitating FAIRification, (iii) data collection, (iv) generating FAIR data in real-time, and (v) using FAIR data. This includes the creation of an electronic case report form and a semantic data model of the elements to be collected (in this case: the “Set of Common Data Elements for Rare Disease Registration” released by the European Commission), and the technical implementation of automatic, real-time data FAIRification in an Electronic Data Capture system. Further, we describe how we contribute to the four facets of FAIR, and how our FAIRification process can be reused by other registries.ConclusionsIn conclusion, a detailed de novo FAIRification process of a registry for vascular anomalies is described. To a large extent, the process may be reused by other rare disease registries, and we envision this work to be a substantial contribution to an ecosystem of FAIR rare disease resources.

【 授权许可】

CC BY