Dispelling myths about rare disease registry system development

M. Bellgard, C. Beroud, K. Parkinson, T. Harris, S. Aymé, Gareth Baynam, T. Weeramanthri, Hugh Dawkins, A. Hunter

    Research output: Contribution to journalArticle

    30 Citations (Scopus)

    Abstract

    Rare disease registries (RDRs) are an essential tool to improve knowledge and monitor interventions for rare diseases. If designed appropriately, patient and disease related information captured within them can become the cornerstone for effective diagnosis and new therapies. Surprisingly however, registries possess a diverse range of functionality, operate in different, often-times incompatible, software environments and serve various, and sometimes incongruous, purposes. Given the ambitious goals of the International Rare Diseases Research Consortium (IRDiRC) by 2020 and beyond, RDRs must be designed with the agility to evolve and efficiently interoperate in an ever changing rare disease landscape, as well as to cater for rapid changes in Information Communication Technologies. In this paper, we contend that RDR requirements will also evolve in response to a number of factors such as changing disease definitions and diagnostic criteria, the requirement to integrate patient/disease information from advances in either biotechnology and/or phenotypying approaches, as well as the need to adapt dynamically to security and privacy concerns. We dispel a number of myths in RDR development, outline key criteria for robust and sustainable RDR implementation and introduce the concept of a RDR Checklist to guide future RDR development. © 2013 Bellgard et al.; licensee BioMed Central Ltd.
    Original languageEnglish
    Pages (from-to)7pp
    JournalSource Code For Biology And Medicine
    Volume8
    Issue number21
    DOIs
    Publication statusPublished - 2013

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    Bellgard, M., Beroud, C., Parkinson, K., Harris, T., Aymé, S., Baynam, G., Weeramanthri, T., Dawkins, H., & Hunter, A. (2013). Dispelling myths about rare disease registry system development. Source Code For Biology And Medicine, 8(21), 7pp. https://doi.org/10.1186/1751-0473-8-21