Limited data about rare diseases related to incidence and prevalence, natural history, epidemiology, impact, and treatment outcomes or a lack thereof, is driving a global emphasis on the value of rare disease registries.
Registries have the capacity to:
- Facilitate public reporting and knowledge building
- Reveal differences in care practices and process and the impact of both on patients
- Identify best practice and target areas for future improvement
- Reveal information about incidence, prevalence, epidemiology, impact, treatment outcomes, the natural history of diseases and much more
However, most rare disease registries collect different types of data and are independent of one another. Very few are meeting their full potential due to limited patient involvement, low levels of data sharing and interoperability, and a lack of consistent standards.
The need for a national approach to rare disease registries was emphasised during multi-stakeholder discussions at the registries workshop at Rare Voices Australia’s (RVA) 2018 National Rare Disease Summit. Since this time, RVA’s Scientific and Medical Advisory Committee (SMAC) has championed the need to progress this work. The National Strategic Action Plan for Rare Diseases (the Action Plan) identifies the key role that registries play in its Research and Data Pillar. The Action Plan was informed by an extensive multi-stakeholder consultation process. Recently, RVA was pleased to finally fund and oversee critical rare disease registries work in collaboration with an expert team at Monash University who have skills and knowledge in the development and operation of clinical quality registries.
Why is a national approach to rare disease registries so important?
The challenges of rare disease registries are multifaceted and complex. In line with the Action Plan, a national approach to rare disease registries is vital because it is not practical or economically feasible to create clinical quality registries for every rare disease. Global leaders in rare disease registries–EURORDIS, NORD and CORD–have jointly declared 10 key principles for rare disease registries. One of these principles is to ensure consistent use of a minimum set of common data elements. This aligns with Action 3.1.4 of the Action Plan, ‘Develop a national approach to person-centred rare disease registries to support national standards, best practice and minimum data sets’.
Implementation 188.8.131.52. in the Action Plan outlines the first step to achieve this:
Develop a summary report of all existing Australian and relevant international rare disease registries, collecting information on:
• governance standards;
• management practices;
• data sets, including patient numbers, estimated incidence, prevalence and coverage; and
• classification systems used (for interoperability with other registries and health information
This information will support national coordination of rare disease registries and the establishment of minimum data sets, to provide a better understanding of who is currently being counted and aid identification of best practice.
To progress this work, RVA, together with Monash University registry experts, Professor Susannah Ahern and Dr Rasa Ruseckaite, are conducting an audit of Australian and relevant international rare disease registries. This rare disease registry audit project consists of the following parts:
Part 1: Scoping review of the academic and grey literature to identify all existing Australian rare disease registries. The aim of this component is to propose minimum data categories for rare disease registries in Australia.
The review is in progress.
Part 2: Survey and interviews with managers of Australian rare disease registries to collect metadata, including the number of patients in each registry, estimated incidence/prevalence, estimated coverage, and data elements stored. The aim of this component is to compare and contrast the registries, and to understand barriers, enablers, views of clinicians and consumers about rare disease registries in Australia. A sample of rare disease registries data custodians and registry managers will be drawn for qualitative interviews to identify their best practice models.
The survey tool is currently under development. RVA will be inviting RVA Partner organisations, SMAC and the RVA Round Table of Companies to take part in this survey soon.
Part 3: Final report integrating all findings.
RVA will report more on this important work as it progresses. We are also pleased to welcome Professor Susannah Ahern to briefly speak about the project as part of the 2021 Virtual National Rare Disease Summit on 12 November.
This audit is a critical first step and will potentially help leverage other important work in the sector on this issue. We anticipate that this work will be completed in the first half of 2022. If you would like to learn more about this project, please contact RVA and stay tuned for updates.