Current state of rare disease registries and databases in Australia: a scoping review

Orphanet Journal of Rare Diseases · 7 authors, 2 centres

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TL;DR

This scoping review identified 74 rare disease registries or databases in Australia to describe their characteristics and impact.

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This scoping review of publicly available data aimed to describe Australian rare disease registries (RDRs), their funding, data collection, and impact. The review identified 74 registries, including global, national, and jurisdiction-specific types. Data elements varied but often aligned with European common data elements, though patient-reported outcomes were captured only by some.

STUDY TYPE

systematic_review

SPECIALTY

epidemiology

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AI pipeline

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100% · A

ORIGINAL PAPER

PMC10373259

Current state of rare disease registries and databases in Australia: a scoping review

Orphanet Journal of Rare Diseases

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ABSTRACT

Background Rare diseases (RDs) affect approximately 8% of all people or > 400 million people globally. The Australian Government’s National Strategic Action Plan for Rare Diseases has identified the need for a national, coordinated, and systematic approach to the collection and use of RD data, including registries. Rare disease registries (RDRs) are established for epidemiological, quality improvement and research purposes, and they are critical infrastructure for clinical trials. The aim of this scoping review was to review literature on the current state of RDRs in Australia; to describe how they are funded; what data they collect; and their impact on patient outcomes. Methods We conducted a literature search on MEDLINE, EMBASE, CINAHL and PsychINFO databases, in addition to Google Scholar and grey literature. Dissertations, government reports, randomised control trials, conference proceedings, conference posters and meeting abstracts were also included. Articles were excluded if they did not discuss RDs or if they were written in a language other than English. Studies were assessed on demographic and clinical patient characteristics, procedure or treatment type and health-related quality of life captured by RDRs or databases that have been established to date. Results Seventy-four RDRs were identified; 19 were global registries in which Australians participated, 24 were Australian-only registries, 10 were Australia and New Zealand based, and five were Australian jurisdiction-based registries. Sixteen “umbrella” registries collected data on several different conditions, which included some RDs, and thirteen RDRs stored rare cancer-specific information. Most RDRs and databases captured similar types of information related to patient characteristics, comorbidities and other clinical features, procedure or treatment type and health-related quality of life measures. We found considerable heterogeneity among existing RDRs in Australia, especially with regards to data collection, scope and quality of registries, suggesting a national coordinated approach to RDRs is required. Conclusion This scoping review highlights the current state of Australian RDRs, identifying several important gaps and opportunities for improvement through national coordination and increased investment.

CITATION EXPORT

Rasa Ruseckaite, Chethana Mudunna, Marisa Caruso et al.. Current state of rare disease registries and databases in Australia: a scoping review. Orphanet Journal of Rare Diseases. (2023). https://doi.org/10.1186/s13023-023-02823-1

AUTHORS

7 · 2 CENTRES

Rasa Ruseckaite, Chethana Mudunna, Marisa Caruso, Falak Helwani, Nicole Millis, Paul Lacaze, Susannah Ahern

1grid.1002.30000 0004 1936 7857Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, VIC 3004 Australia
2Rare Voices Australia, VIC 3194, Melbourne, Australia