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

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.

Informing a national rare disease registry strategy in Australia: a mixed methods study

“…Investing in the infrastructure and staffing would assist in streamlining and simplifying the maintenance and data entry demands of RDRs across Australia. Finally, RDRs should be promoted in hospitals and relevant clinics, and collaborations with relevant international registries should be sought [ 11 ].…”

“…A series of studies were conducted to describe the current state of the RDRs capturing Australian data. The first study was a scoping review of the literature in which we identified seventy-four RDRs [ 11 ]. The present study aims to explore data captured by the RDRs identified in the scoping review, to describe registry impact, barriers and enablers of data collection, registry funding, and the future potential of RDRs to improve patient outcomes, facilitate research and clinical trials and provide ongoing surveillance.…”