The Quality Evaluation of Rare Disease Registries—An Assessment of the Essential Features of a Disease Registry

Salma Rashid Ali, Jillian Bryce, Yllka Kodra, Domenica Taruscio, Luca Persani and Syed Faisal Ahmed
Additional contact information
Salma Rashid Ali: Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow G51 4TF, UK
Jillian Bryce: Office for Rare Conditions, University of Glasgow, Glasgow G51 4TF, UK
Yllka Kodra: National Centre for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy
Domenica Taruscio: National Centre for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy
Luca Persani: Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano, 20100 Milan, Italy
Syed Faisal Ahmed: Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow G51 4TF, UK

IJERPH, 2021, vol. 18, issue 22, 1-9

Abstract: Rare disease (RD) registries aim to promote data collection and sharing, and facilitate multidisciplinary collaboration with the overall aim of improving patient care. Recommendations relating to the minimum standards necessary to develop and maintain high quality registries are essential to ensure high quality data and sustainability of registries. The aim of this international study was to survey RD registry leaders to ascertain the level of consensus amongst the RD community regarding the quality criteria that should be considered essential features of a disease registry. Of 35 respondents representing 40 RD registries, over 95% indicated that essential quality criteria should include establishment of a good governance system (ethics approval, registry management team, standard operating protocol and long-term sustainability plan), data quality (personnel responsible for data entry and procedures for checking data quality) and construction of an IT infrastructure complying with Findable, Accessible, Interoperable and Reusable (FAIR) principles to maintain registries of high quality, with procedures for authorized user access, erasing personal data, data breach procedures and a web interface. Of the 22 registries that performed a self-assessment, over 80% stated that their registry had a leader, project management group, steering committee, active funding stream, website, and user access policies. This survey has acceptability amongst the RD community for the self-quality evaluation of RD registries with high levels of consensus for the proposed quality criteria.

Keywords: registries; databases; quality; rare diseases; rare conditions (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2021
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.mdpi.com/1660-4601/18/22/11968/pdf (application/pdf)
https://www.mdpi.com/1660-4601/18/22/11968/ (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:gam:jijerp:v:18:y:2021:i:22:p:11968-:d:679117

Access Statistics for this article

IJERPH is currently edited by Ms. Jenna Liu

More articles in IJERPH from MDPI
Bibliographic data for series maintained by MDPI Indexing Manager ().