TY - JOUR
T1 - The de novo FAIRification process of a registry for vascular anomalies
AU - Groenen, Karlijn H. J.
AU - Jacobsen, Annika
AU - Kersloot, Martijn G.
AU - dos Santos Vieira, Bruna
AU - van Enckevort, Esther
AU - Kaliyaperumal, Rajaram
AU - Arts, Derk L.
AU - ‘t Hoen, Peter A. C.
AU - Cornet, Ronald
AU - Roos, Marco
AU - Kool, Leo Schultze
N1 - Funding Information: BV and LSK are members of the Vascular Anomalies Working Group (VASCA WG) of the European Reference Network for Rare Multisystemic Vascular Diseases (VASCERN)—Project ID: 769036. AJ, BV, EvE, RK, PAC’tH, RC and MR’s work is supported by the funding from the European Union’s Horizon 2020 research and innovation programme under the EJP RD COFUND-EJP N° 825575. MK’s and DA’s work is supported by funding from Castor EDC. KG’s work is supported by the department of Medical Imaging, Radboud university medical center. EvE is also supported by FAIR genomes, under ZonMW Personalized Medicine program No. 846003201. The funding bodies were neither involved in the design of the study, nor in the collection, analysis, and interpretation of data, nor in the writing of the manuscript. Publisher Copyright: © 2021, The Author(s).
PY - 2021/12/1
Y1 - 2021/12/1
N2 - Background: Patient 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. Results: We 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. Conclusions: In 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.
AB - Background: Patient 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. Results: We 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. Conclusions: In 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.
KW - FAIR data
KW - FAIRification process
KW - Interoperability
KW - Patient registry
KW - Rare diseases
KW - Vascular anomalies
UR - http://www.scopus.com/inward/record.url?scp=85114312225&partnerID=8YFLogxK
U2 - https://doi.org/10.1101/2020.12.12.20245951
DO - https://doi.org/10.1101/2020.12.12.20245951
M3 - Article
C2 - 34481493
SN - 1750-1172
VL - 16
SP - 2020.12.12.20245951
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 376
ER -