Rare Disease Registry Audit: Key Findings and Project Update

RVA News

The much-awaited key findings from the Australian Rare Disease Registry Audit project, led by Monash University registry experts, Professor Susannah Ahern and Dr Rasa Ruseckaite, are in. Rare Voices Australia (RVA) is overseeing this critical work in recognition of the importance of rare disease registries (RDRs), which is acknowledged in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan). Thank you to the rare disease community for your genuine interest in this work and to all RVA Partners and registry managers who dedicated their time to participate in the survey and interviews. Your contributions have shaped this important first step towards a national approach to RDRs in Australia.

The importance of RDRs

The Action Plan highlights that in Australia, data for most rare diseases is not captured in either health information systems or registries and there is no coordinated strategy to collect, measure, build and translate data that does exist.

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.

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.

Implementation step in the Action Plan outlines the first step to achieve a national approach:

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.

Rare Disease Registry Audit


The Rare Disease Registry Audit progresses the work outlined in Implementation step in the Action Plan.

The objectives of this project were to highlight the ‘current state of play’ of RDRs in Australia, including what RDRs exist nationally, how they are funded, what they do with their data and their impact on patient outcomes. Other areas addressed through consultation with existing Australian RDRs included barriers and enablers to setting up sustainable RDRs, perceptions about the future potential for RDRs to improve clinical outcomes and ideas for the way forward.

Key Findings

Key Finding 1: Data collected by RDRs

  • 43% collect information related to treatments
  • 50% collect clinical/diagnostic information
  • 50% collect demographic data
  • 25% collect information related to adverse events
  • 43% collect Patient Reported Outcome Measures (PROMS)/Quality of Life Measures (QoL)

Key Finding 2: Uses of data collected by RDRs

  • 45% use data for research (e.g. clinical trials, epidemiological modelling, collaborative projects, secondary data)
  • 12% use data for post-marketing surveillance for high-cost medicines
  • 32% produce publications

Key finding 3: Impact of RDR’s not measured

The impact of rare disease registries is not routinely measured. The study showed there are clear examples of RDRs having a positive impact.

The Australian Cystic Fibrosis Data Registry (ACFDR) for example, is a long-standing, clinician led international cystic fibrosis (CF) registry, established in 1996. ACFDR has benefited from strong community support and advocacy by former Australian Health Ministers. This support has allowed ACFDR to capture data from over 3,500 people (over 90% of Australians) living with CF. ACFDR has played a crucial role in:

  • improving clinical outcomes
  • facilitating recruitment to clinical trials
  • driving epidemiological modelling
  • driving collaborative research
  • tracking long-term outcomes of those on new generation modulator drugs (post-market surveillance)
  • monitoring preventative care interventions as the population ages.

Nonetheless, of the 40 RDRs surveyed, the majority shared that the impact of their registry on the community was not measured or no direct impact had been made—mainly due to small sample sizes or a slow rollout. Of those registries measuring impact, the top three areas where this impact was demonstrated were changes in treatment outcomes, process of care and quality of care.

Key finding 4: Common challenges for RDRs

Together, data from the literature review, survey and interviews identified several challenges and enablers of running RDRs.


  • insufficient funding and resources
  • sustainability
  • lack of government support
  • recruitment
  • governance
  • transparency of data use
  • data completeness
  • limitations on the types of data that can be collected by organisations who are not registered health providers
  • difficulties obtaining ethics approval, and barriers to collecting biological samples from rural and remote communities were also reported.


  • dedicated staff
  • contribution of clinicians’ time
  • enthusiasm and commitment from a steering committee
  • well defined cope and objectives
  • site participation
  • funding.

Interview respondents’ views for the way forward for rare disease registries in Australia

In line with the Action Plan, all interviewees were in favour of a national approach to RDRs. Discussions centred on:

  • the need for a nationally consistent minimum dataset
  • the need for a register of registries
  • integration with other registries and international datasets
  • interoperability
  • most appropriate platforms
  • increased participation in registries
  • the community education on the value of registries
  • data security and confidentiality.

Where did the data come from?

  • 74 RDRs and databases collecting Australian data were identified in the literature – 19 were global, 24 were Australian, 10 were Australia and New Zealand-based, 5 were state-based and 16 were Australian umbrella registries capturing data on multiple conditions.
  • 40 registries collecting Australian data responded to the survey – 9 were Australian, 12 were state-based, 5 were Australia and New Zealand-based and the remaining 14 were global.
  • Of the 40 registries who responded to the survey, 8 registry managers agreed to take part in one-on-one interviews; 4 of these registry managers ran global registries.

What next?

These findings will inform recommendations and next steps for rare disease data collection in Australia. They will become the evidence-base for conversations with key decision makers to drive policy that supports RDRs and infrastructure to meet Action 3.1.4 in the Action Plan ‘Develop a national approach to person-centred rare disease registries to support national standards, best practice and minimum data sets’.

New online course for setting up a rare disease registry coming soon to RVA’s Online Education Portal

Thanks to the interest of RVA Partners, this work has inspired RVA to develop education around building a RDR. This online course will be co-developed with Dr Ruseckaite, Professor Ahern and other registry experts. RVA anticipates this course will be available on RVA’s Online Education Portal in late 2022.