Rare Voices Australia Research Update: April — July 2021

RVA News

Rare Voices Australia (RVA) has continued investing heavily in rare disease research in 2021 to gather evidence for policy reform that leads to better outcomes for Australians living with a rare disease. We are dedicated to building an active presence in the rare disease research arena. At RVA, we work across the research continuum to identify needs or gaps, develop research questions, and engage in research co-design. RVA supports the need for high-quality collaborative research, welcoming genuine partnerships (see RVA’s Guidelines for Research Partnerships) with groups planning or undertaking research of all types that broadly aligns with one or more of the research priorities detailed in the National Strategic Action Plan for Rare Diseases (the Action Plan). We also conduct and commission field research to build evidence for disease prevention, better clinical outcomes, and access to government-funded treatments, diagnostic tools and care pathways for all Australians living with a rare disease.

Since the launch of the Action Plan by the Minister for Health in February 2020, with bipartisan support, a pragmatic shift has highlighted the importance of investing in rare disease research in Australia. This is evident in recent and ongoing investments of the Medical Research Future Fund (MRFF) into Rare Cancers, Rare Diseases and Unmet Need, and the Genomics Health Future Mission.

Research at RVA is collaborative, person-centred and broadly applicable to all rare diseases. RVA aims to invest in all types of rare disease research, including rare disease coding, data collection, fundamental discovery research, qualitative research, pre-clinical testing, diagnostics and clinical trials. RVA continues to make significant contributions to rare disease research in ways that progress the implementation of the Action Plan. Some of this work is showcased in the paragraphs that follow.

Priority 1.3: Develop a national rare disease workforce strategy that responds to current and future demands, including the impact of genomics.

RVA has recently commissioned Equity Economics to gather evidence around existing strengths and gaps in the rare disease workforce, using the rare metabolic workforce as an example. According to anecdotal evidence from the metabolic healthcare workforce, the number of qualified metabolic specialists is plummeting, and we are not prepared for future demand. To progress this work, we have sought input from metabolic patients and the metabolic healthcare workforce to get a holistic snapshot of the healthcare system to inform a more sustainable and equitable metabolic workforce. The outcomes of this case study will highlight synergies across rare disease healthcare, which we can leverage and apply more broadly across the sector.  

Action 3.1.4: Develop a national approach to person-centred rare disease registries to support national standards, best practice and minimum data sets.

Multiple research papers and stakeholder consultation processes in Australia have identified the need for a national, coordinated, and systematic approach to the collection and use of rare diseases data, including registries. According to EURORDIS–Rare Diseases Europe, rare disease registries are ‘indispensable infrastructure tools for translating basic research and clinical expertise into therapeutic tools’. Registries are vital to growing our basic understanding of rare diseases, developing new treatments, and improving patient care. However, despite the value of clinically-led patient registries in particular, infrastructure for rare disease registries in Australia is not a priority. RVA recognises registries as an effective way to improve rare disease data collection and use. In 2018, RVA established the National Alliance of Rare Disease Registries to bring registry operators together to build a national strategy and foundation for rare disease registries, with the aim of attracting federal investment for registry sustainability. To progress Action 3.1.4 further, RVA are collaborating on an Australian rare disease registry scoping project led by Professor Susannah Ahern, head of the Registry Science and Research Program, and Doctor Rasa Ruseckaite, deputy head of the Clinical Outcomes Data Reporting and Research Program, at Monash University. Watch this space for more updates on this important work.

In-kind support for researchers

RVA’s expertise in rare disease advocacy, policy and Heath Technology Assessment processes are sought after by researchers because they are critical to systemic reform. Advocacy for systemic reform was emphasised in the stakeholder consultations that informed the development of the Action Plan. To this end, RVA has been providing letters of support and other in-kind support to rare disease researchers seeking funding for research broadly applicable to, or at least a steppingstone to, broader systemic change for rare disease care. RVA’s recent contributions of in-kind support to grants and our work co-writing grants have been exceedingly successful. This can be seen with the announcement of MRFF funding for the Genomics Health Future Mission awarded to some of RVA’s research partners, and RVA’s award of funding from the Australian Government’s Rare Disease – Support, Education and Training Grant. Click here to read more about the Rare Awareness, Education, Support and Training (RArEST) project.

Other ways RVA has been engaging in research in 2021

Earlier this year, RVA’s CEO, Nicole Millis, co-authored a paper published in the Journal of Paediatrics and Child Health. This paper brought the Action Plan into focus. It shone a light on the need to build knowledge with the input of all stakeholders, including researchers—a need to which RVA is committed. The paper also proves that patient advocate leaders and the public can and should be published in peer-reviewed journals. RVA has also been:

  • Participating as an independent patient advocate on steering committees or patient advisory committees for clinical trials and other relevant projects.
  • Leading the collaborative development of the Rare Awareness Rare Education (RARE) Portal, a living website of rare disease information and resources for people living with a rare disease and their families and carers, researchers, clinicians and allied health professionals.
  • Participating in peer review processes on relevant grant review panels.
  • Influencing government investment in research through consumer-centred systemic advocacy. For example, RVA motivated broader and ongoing investment in the MRFF Rare Cancers, Rare Diseases and Unmet Need Grant opportunity.
  • Providing education for RVA Partner Organisations on ways to engage meaningfully in research, via RVA’s Rare Disease Research in Australia three-part webinar series (available soon on RVA’s Online Education Portal, which is almost ready to launch).

If you are a researcher looking to partner with RVA, please read RVA’s Research Partnership Guidelines and contact us if you have any questions. Or, if you are an RVA Partner or a rare disease support organisation wanting to learn more about engaging effectively in research, please contact RVA at [email protected].

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