Category: News

Rare Voices Australia (RVA) congratulates Rosemary Huxtable AO PSM, Chair of the National Health and Medical Research Strategy (National Strategy), and the broader development team on releasing Australia’s first-ever draft National Health and Medical Research (HMR) Strategy (draft Strategy).

As the national peak body for Australians living with a rare disease, RVA was appointed to the National Strategy Technical Reference Group. The Technical Reference Group has been supporting the development of the National Strategy. Dr Falak Helwani, RVA’s Research and Evaluation Manager, has been participating in these meetings.

RVA acknowledges the challenges involved in bringing together diverse stakeholder perspectives and distilling them into an actionable strategic framework. The draft Strategy is appropriately detailed and future-oriented, with tangible examples of the change stakeholders want to see.

RVA welcomes the inclusive tone and ambition of the draft Strategy, particularly its vision of “Delivering for All.” However, RVA has called for several important refinements to ensure the draft Strategy genuinely reflects the needs of all Australians, including those living with rare disease.

Some Key Messages from Rare Voices Australia’s Submission:

RVA:

• Urged rare disease be explicitly mentioned in the draft Strategy. Rare diseases are recognised internationally as a global health priority and a leading driver of healthcare cost and inequity. Failure to highlight rare disease in the draft Strategy risks leaving two million Australians behind and falling out of step with global best practice, including the 2025 World Health Assembly Resolution on Rare Diseases (adopted by Australia), which urges member states to integrate rare disease into national health plans. Furthermore, explicit mention of rare diseases is important for implementing the goals of the National Health Reform Agreement to address significant gaps faced by Australians living with rare disease.
• Strongly recommended the inclusion of Policy as a core enabler in the draft Strategy and greater attention to the importance of policy throughout the draft Strategy. Equity cannot be achieved without resourcing policy development and reform. RVA stressed that while research builds evidence, it is policy that ensures equitable implementation of new care, treatments and knowledge.
• Stressed the fundamental importance of designing a draft Strategy that crosscuts all systems, including disability, and builds evidence to inform a whole-of-person approach to health and wellbeing.
• Urged replacing the words ‘consumer-centred’ with ‘person-centred’ throughout the draft Strategy. This framing is more inclusive of all stakeholders — consumers, clinicians, and researchers — and reflects a whole-person, partnership-based approach.
• Cautioned that emerging technologies, such as gene and cell therapies, may not benefit all Australians equally. To acknowledge this, RVA recommended the draft Strategy focus on ‘measurable’ rather than universal benefits.
• Encouraged explicit mention of the inclusion of consumer involvement in horizon scanning for new technologies.
• Recommended highlighting existing Australian Rare Disease Centres of Expertise as a proven model for integrating research and care.
• Highlighted current rare disease data gaps, which must be addressed. If left unaddressed, they will be a barrier to metrics to understand the success of the draft Strategy for the rare disease community.

Next Steps

Feedback from the submissions received will contribute to the refining of the draft Strategy. It is anticipated that the final National Health and Medical Research Strategy will be released in early 2026.

RVA’s full submission will be available on RVA’s website under Policy and Submissions, in time.

The Australian Rare Disease Research Network (ARDRN) held its first virtual meeting on 18 September 2025, with 38 rare disease researchers from a range of jurisdictions, disciplines and career stages in attendance. Rare Voices Australia (RVA) thanks everyone who joined the meeting, including members of our Scientific and Medical Advisory Committee (SMAC)—Dr Emma (Elizabeth) Palmer, Clin/Prof Gareth Baynam and Dr Lisa Ewans and Prof Adam Jaffe—for co-chairing and presenting.

The meeting marked the formal launch of the ARDRN—an initiative designed to broaden RVA’s engagement with researchers, encourage increased connectivity, visibility and collaboration among Australian rare disease researchers, and facilitate research translation and alignment with the Australian Government’s National Strategic Action Plan for Rare Diseases and international rare disease priorities.

A key focus of the meeting was the official launch of Australia’s Top 10 Rare Disease Research Priorities (the Top 10). ARDRN members recognised the Top 10 as a valuable tool for guiding future research agendas, informing funding applications and aligning with international efforts. The discussion also highlighted the importance of presenting rare diseases as a national research priority to attract sustainable investment and elevate the profile of rare disease.

During the meeting, ARDRN members highlighted several challenges for rare disease research in Australia, including:

• Limited and fragmented funding opportunities
• Registry and database sustainability
• Ethics and governance approvals across jurisdictions
• The lack of designated rare disease centres of expertise
• Barriers to translating research into policy and clinical practice

Members also shared opportunities for the ARDRN, including building a cohesive voice that amplifies the visibility and expertise of rare disease health and medical researchers, strengthening meaningful consumer involvement in rare disease research, fostering stronger collaboration across disciplines to avoid duplication, leveraging international exemplars such as the International Rare Disease Research Consortium (IRDiRC) and the European Rare Diseases Research Alliance (ERDERA), and ensuring research directly informs both health and disability systems.

Attendees expressed interest in future ARDRN meetings focusing on sharing successful strategies for securing Commonwealth funding for rare disease research, and best practices for involving people living with rare diseases in research.

The ARDRN will continue to host regular forums, collectively monitor gaps and opportunities, and advocate for rare diseases to be recognised as a national research priority. For updates on the ARDRN, please follow RVA’s monthly eNewsletter. You can subscribe to receive these updates via this form if you haven’t already.

Rare Voices Australia (RVA) recently provided input into the consultation on the draft Statement on Consumer and Community Involvement in Health and Medical Research (draft Statement).

The National Health and Medical Research Council (NHMRC) and the Consumers Health Forum of Australia (CHF) are reviewing the Statement. Learn more about the review via the NHMRC’s website.

About Rare Voices Australia’s Submission

RVA’s submission is informed by the Australian Government’s National Strategic Action Plan for Rare Diseases, which highlights the need to ensure research into rare diseases is collaborative and person-centred. As the national peak body for Australians living with a rare disease, RVA strongly supports a robust framework to embed meaningful consumer involvement across all areas of health and medical research.

RVA’s submission welcomed the inclusion of values such as accountability, transparency, equity, respect and diversity in the draft Statement. Based on experience partnering with researchers, RVA views accountability as an overarching value underpinning effective consumer involvement.

Recommendations from Rare Voices Australia’s Submission

RVA’s submission also outlined several recommendations to strengthen the draft Statement, including the need to:

• Explicitly highlight the importance of active, early and continuous consumer engagement from conceptualisation to outcomes, including planning for next steps when projects conclude
• Provide more tangible examples of how consumers can be actively and meaningfully involved at every stage of the research cycle
• Strengthen the values by highlighting the importance of ‘solution-focused’ and ‘strengths-based partnerships’
• Better emphasise the importance of long-term investment in building respectful, trusted partnerships with consumer representatives
• Provide training and capability-building for both researchers and consumers to ensure effective involvement
• Set clear expectations for consumer roles, acknowledge contributions, and embed reflective practice as part of accountability
• Prioritise representative consumer involvement to reflect diverse perspectives
• Require institutions and funders to monitor and hold researchers accountable for their commitment to involving consumers
• Implement accountability mechanisms, such as mandatory reporting on consumer involvement and opportunities for consumer feedback to researchers, funders and institutions
• Embed cultural change, by integrating the Statement into undergraduate curricula and early career researcher development to support long-term systemic change

Download Rare Voices Australia’s Submission

RVA Submission: Draft Statement on Consumer and Community Involvement in Health and Medical Research (PDF)

Note: this article was updated with RVA’s Submission on 13 May 2026.

The Medical Services Advisory Committee (MSAC) has published its advice on newborn bloodspot screening (NBS) for mucopolysaccharidosis type I (MPS I), mucopolysaccharidosis type II (MPS II) and Pompe disease.

MSAC uses a health technology assessment framework to assess applications for the public funding of health services and technologies. Their assessment process includes consultation.

After undergoing comprehensive assessments, MSAC:

• Supported adding MPS I and MPS II to Australia’s NBS programs
• Did not support adding Pompe disease at this time

Public Summary Documents Detailing the Medical Services Advisory Committee’s Advice

You can read the full Public Summary Documents that explain MSAC’s advice, which include a Consumer Summary, at the Department of Health, Disability and Aged Care’s website via the below links.

• MPS I
• MPS II
• Pompe disease

Next Steps Following the Medical Services Advisory Committee’s Advice

For MPS I and MPS II, in line with the NBS decision-making pathway, MSAC’s advice will progress through the pathway for a final decision regarding the above conditions, which will be made by Australia’s health ministers. The latest updates are being published on the NBS web page at the Department of Health, Disability and Aged Care’s website.

For Pompe disease, in the Consumer Summary, “MSAC advised that newborn screening for infantile-onset GSD II [Pompe disease] could be re-considered when a test is available that is able to accurately predict the type of GSD II.”

Rare Voices Australia’s Advocacy on Behalf of Australians Living with a Rare Disease

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) will continue to work with the Commonwealth and state governments with a focus on achieving a nationally equitable, consistent and sustainable NBS Program.  

We recognise the individuals, rare disease organisation leaders and their communities who have been engaged in the NBS and MSAC process for these conditions for their tireless efforts and ongoing commitment. RVA understands that this decision is extremely disappointing for RVA Partner, the Australian Pompe Association, which has long been advocating for Pompe’s inclusion on the NBS. We acknowledge the ongoing lack of diagnostic pathways for Pompe disease and their impacts on those living with Pompe disease and their families.

RVA calls on the Department of Health, Disability and Aged Care to work with consumers and rare disease organisation leaders to:

• Explore next steps with the Pompe community to urgently identify pathways to timely and accurate diagnosis  
• Ensure transparency for MPS I and MPS II communities as the NBS decision-making pathway continues

Timely and Accurate Diagnosis and the National Strategic Action Plan for Rare Diseases

As outlined in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), timely and accurate diagnosis of a rare disease is critical. While NBS is a critical program, the Action Plan highlights the importance of Australians having “…equitable access to a range of diagnostic tools and tests, providing the best chance of early and accurate diagnosis.” (Action 2.2.1)

RVA continues to advocate for a greater understanding of the various community and consumer views on ethical considerations for a range of screening and diagnostic tests, including NBS.

On 5 June 2025, RVA attended a workshop co-hosted by Research Australia and Digital Health CRC. The workshop brought together key stakeholders from across the health and medical data, research and innovation ecosystem, including government, academia, peak bodies, and industry. A brief overview of the workshop is available on Digital Health CRC’s website.

Rare Voices Australia’s Contribution

RVA provided input on behalf of Australians living with a rare disease at the workshop and to the draft Communique that was distributed post workshop. RVA endorsed the final Communique, which was published in July. RVA will now continue to be involved in the next steps to help progress this work, including reconvening with the group that attended the initial workshop to continue the conversation.

The Royal Australasian College of Physicians (RACP), together with the Human Genetics Society of Australasia (HGSA) and metabolic specialists, have been reviewing the clinical genetics curriculum, which encompasses metabolic genetics and cancer genetics. Recent consensus suggests the clinical genetics curriculum should be considered separate to metabolic genetics, due to differences in the skills required for complex management of metabolic patients.

This new development from RACP and HGSA presents an exciting opportunity for metabolic medicine in Australia. Currently, the RACP and HGSA are considering a viable path forward.

Commissioned by Rare Voices Australia (RVA) and guided by Australian metabolic experts and the broader sector, Goal 4 of the National Strategy for Australia’s Rare Metabolic Diseases Workforce¹ (the Strategy), calls for ‘Recognition of the metabolic specialty and best practice criteria’.

As highlighted in the Strategy, “the metabolic specialty in Australia remains unrecognised and under-resourced, which limits opportunities for knowledge sharing, specialist professional education and pathways to innovative new treatments.”²

While the RACP noted concerns regarding cost and time constraints for specialty recognition, the Strategy stressed that:

“Formal recognition of metabolic medicine as a specialty, by the RACP, is an essential first step to advocate for the development and resourcing of multidisciplinary and highly specialised rare metabolic services.”

This step would enable a pipeline of suitably trained and experienced metabolic physicians, dietitians, genetic counsellors and nurses minimally required for best practice in a specialist metabolic service.

As the national peak body for Australians living with a rare disease leading the collaborative implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases, which calls for a national rare disease workforce strategy that responds to current and future demands, RVA welcomes this progress and encourages the RACP and HGSA to consider the goals and recommendations identified in the Strategy.

References

1. Equity Economics and Rare Voices Australia (2022), Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia, February 2022. Available from: https://rarevoices.org.au/launched-rare-metabolic-disease-workforce-white-paper/
2. Commonwealth of Australia. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available from: https://www.health.gov.au/sites/default/files/documents/2020/03/ national-strategic-action-plan-for-rare-diseases.pdf

As part of the Rare Disease Disability Project (the Project), Rare Voices Australia (RVA) is facilitating virtual kitchen table peer support sessions. Two sessions will be held:

• A session for people living with rare disease disability
• A separate session for caregivers of people living with rare disease disability

Who Are the Rare Disease Disability Virtual Kitchen Table Sessions For?

Members of the general public living with rare disease disability or caring for those living with rare disease disability. Input from RVA Partners (rare disease groups/organisations) is being captured through the Rare Disease Disability Network (RDDN). The RDDN is open to leaders from RVA Partner groups/organisations and other sector stakeholders. If you are an RVA Partner leader who is interested in joining the RDDN, please reach out: [email protected]

Virtual Kitchen Table Session Details

Date: Thursday, 22 May 2025

Registration

Session for people living with rare disease disability (11am – 1pm AEST)

Session for caregivers of people living with rare disease disability (2pm – 4pm AEST)

The topic for these initial sessions is Rare Disease Disability Resources: What’s Working? What’s Missing? Come and share the resources and strategies you use to navigate rare disease disability needs in health, education, housing, employment, and the National Disability Insurance Scheme. Share ideas, learn from others and connect through this peer support session.

RVA is proudly delivering projects for the Peer Support and Capacity Building grant for the NDIS. 

Queries

Please send any questions you may have about the virtual kitchen table peer support sessions or the Project to: [email protected].