Category: News

Thank you to everyone who joined Rare Voices Australia (RVA) for the 2024 National Rare Disease Summit on 15 and 16 November in Brisbane. The Summit brings together the rare disease sector – thank you all for making this year’s Summit a success (read a selection of the stakeholder feedback received)! We especially thank our diverse range of speakers who shared their expertise and perspectives so generously, particularly RVA Ambassador Ryan Brown who shared his personal story as part of the opening session. Special thanks to our other RVA Ambassadors who also joined us in person.

Additionally, RVA thanks Senator Wendy Askew, Co-Chair, Parliamentary Friends of Rare Diseases (the Parliamentary Friends) and Senator for Tasmania, who joined us in person at the Summit and spoke on behalf of the Parliamentary Friends. We also thank the Hon Mark Butler MP, Minister for Health and Aged Care, and Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care, who were unable to join us in person but provided recorded messages. Your ongoing support of RVA as the national peak body for Australians living with a rare disease and the rare disease sector is very much appreciated.

Opening Address: Hon Mark Butler MP, Minister for Health and Aged Care

Opposition Address: Senator the Hon Anne Ruston, Shadow Minister for Health and Aged Care

What Attendees Said About the Summit

“Thank you for a wonderful day yesterday and congratulations on a fantastic event.” – RVA Partner (rare disease group/organisation representative)

“… two brilliant days at the National Rare Disease Summit in Brisbane, coordinated by the incredible Rare Voices Australia, with so many passionate contributions from the whole sector, patient groups, government, clinicians, researchers, industry. The meeting was a stark reminder that so much of the care and progress for people with rare diseases comes from ridiculously dedicated people who push no matter what, including fighting against inflexible and outdated systems.” – Clinician/Researcher

“Felt so honoured to be on a panel and it has already been so beneficial to us so thank you again so very much for the opportunity. Enjoy some downtime after what was a brilliant few days.” – RVA Partner (rare disease group/organisation representative)

“A short note to congratulate you and your team on hosting a wonderful conference in Brisbane. My first Rare Voices Australia conference, but not my last. I learned so much about rare diseases, the research and collaboration that’s going on and the patient and persistent advocacy” – Industry

Background Information and Brief Recap: 2024 National Rare Disease Summit

The Summit’s 2024 theme was Progress Beyond Policy. Implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) requires ongoing collaboration and support from the entire rare disease sector to achieve its vision: The best possible health and wellbeing outcomes for Australians living with a rare disease. The Summit provided the rare disease sector with a fantastic opportunity to progress the collaborative implementation of the Action Plan, while maintaining a person-centred approach. The Summit was attended by people living with a rare disease; governments; key peak bodies; researchers; clinicians; industry; the RVA Board; RVA’s Scientific and Medical Advisory Committee; RVA Ambassadors; and RVA staff. Summit attendance was by invitation to ensure stakeholder balance.

The two-day program incorporated a mix of plenary sessions, panel discussions, workshops and networking opportunities. We welcomed back radio host; actor; comedian; and television producer, Julian Morrow, as our Master of Ceremonies.

RVA’s Chief Executive Officer, Nicole Millis, emphasised that as a member of the rare disease sector, every attendee is a rare disease advocate given advocacy’s central role in rare disease. Nicole emphasised the ongoing maturity of the sector, including its ability to understand policy and collaborate in achieving the best outcomes for Australians living with a rare disease. As part of her opening speech, Setting the Scene for the 2024 National Rare Disease Summit, Nicole highlighted the unprecedented number of Department of Health and Aged Care (DoH) and National Disability Insurance Agency (NDIA) representatives at the Summit and pointed to the need for a Rare Disease Office within the DoH, as recommended in The New Frontier: Inquiry into approval processes for new drugs and novel medical technologies in Australia report. Nicole also spoke about RVA’s other 2025 Federal Election asks, including Rare Disease Centres of Expertise; effective HTA Review implementation; investment into data collection and codesign for the NDIA; and the completion of the National Strategic Framework for Chronic Conditions refresh, which is the framework the Action Plan sits under.

As part of her closing remarks, Nicole reiterated that Action Plan implementation is well underway and emphasised the high-level engagement of governments. Nicole also drew attention to the energy, buzz, goodwill, connection, comraderie and connection in the room over the course of the two days. She ended with the importance of three words to summarise the Summit and rare disease advocacy more generally: partnership, trust and persistence.

Networking Event

As part of the 2024 Summit, RVA organised a networking evening, which provided guests with the opportunity to continue their discussions following day one of the Summit. Thank you to everyone who joined us!

Acknowledgements

RVA thanks our sponsors for their support of the Summit and their ongoing support of RVA and Australians living with a rare disease:

• Alexion
• Argenx
• Biogen
• BioMarin
• Chiesi
• CSL Behring
• Pfizer
• Takeda

In 2020, Rare Voices Australia (RVA) launched our inaugural RVA Ambassador Program to coincide with our 10^th anniversary year. The initiative continued beyond 2020 due to popular demand and has since gone from strength-to-strength. The RVA Ambassador Program provides people living with a rare disease and those with professional experience of working with rare diseases with the opportunity to share their experiences with the broader rare disease sector.

Images (left to right): RVA Ambassadors at a Parliamentary Event and RVA Ambassadors at the Gala Event 10th anniversary celebrations at the 2022 National Rare Disease Summit

To continue promoting diversity and showcasing the breadth of rare diseases and people’s unique stories, we will be refreshing our RVA Ambassador Program in 2025 through an expression of interest (EOI) process. We’re keen to hear from a broad range of Australians living with a rare disease, including carers; family members; those living with an undiagnosed rare condition; bereaved parents; people living with a disability; and so on.

Important: Please note that this is a volunteer role and that RVA does not have funding to provide remuneration to RVA Ambassadors.

Thank you to our inaugural ambassadors, listed below, for their invaluable contributions since being appointed official RVA Ambassadors.

• Katie Alexander
• Andrew Bannister
• Lachy Beckett
• Ryan Brown
• Ebony Callaghan
• Nathan Charles
• Tim Fulton
• Tammie Rees
• Beck Webber
• Renae Wood

Expressions of Interest Sought: 2025-27 Rare Voices Australia Ambassador Program

RVA is currently seeking EOIs from those interested in the 2025-27 RVA Ambassador Program. We are looking for between 8-10 ambassadors. Before applying, please read the information below to see if you are a suitable candidate.

Rare Voices Australia Ambassador Requirements

• Lived or professional experience of rare diseases and based in Australia
• Demonstrated use of personal network and platforms to advocate for the best outcomes for the broader rare disease community
• A demonstrated supporter of RVA
• Willing to review and consider signing RVA’s Ambassador Agreement, which can be provided on request to those interested
• Aligned with RVA’s ‘ways of working’ as an RVA Ambassador, which are outlined below

RVA Ambassador Opportunities

• Share their personal story, which will be featured as a written article on RVA’s website. We will also invite ambassadors to film a short video to complement their written story. Each personal story will also be promoted in an edition of our monthly eNewsletter and RVA’s social media channels.
• Email a copy of the National Strategic Action Plan for Rare Diseases to their local Federal and State Members of Parliament (MPs). Ambassadors are invited to organise a meeting with their local MPs to speak about their personal experience of living with a rare disease and rare diseases in general.
• Attend RVA events in 2025-27 in a volunteer capacity where appropriate. RVA will reimburse ambassadors in line with our Travel Policy for RVA Ambassadors.
• Use their networks (e.g. social media, newsletter databases etc.) to cross promote RVA’s work and key initiatives.
• Contribute to relevant media stories from the perspective of an individual living with a rare disease or as a professional who has worked with rare diseases.

All RVA Ambassadors will receive a Welcome Pack via email. We will also support each ambassador in their role as needed. Please direct any questions you may have regarding RVA’s Ambassador Program to: [email protected]

Rare Voices Australia: How We Work

Ways of working

We are person-centred

We want the outcomes that are best for each person. We will be driven by people’s individual needs and what works best for them.

We adopt a systemic focus

We are uniquely positioned to engage in systemic advocacy. Effective reform to systems and processes must be prioritised to reduce the number of individuals and groups repeatedly facing common challenges. This is vital to achieving sustainable change at scale.

We aim for a unified voice

We recognise that without a unified voice, the rare disease sector cannot be successful in achieving the support Australians living with a rare disease need. Therefore, RVA prioritises consultation, conversation, co-design, support and education within the sector to ensure our voice to policymakers and the broader community is unified and reflects the views of key stakeholders.

We actively build and maintain partnerships

We are the voice of the sector, magnifying the voices of all stakeholders that share our goals. We recognise that achieving the transformation we want to see in Australia will require working in partnership with key stakeholders.

We work for equity of access and participation

We believe equity of access and participation is vital for all Australians living with a rare disease. We ensure equity is a key factor in the planning and design of our initiatives, and the principles of equity will be foremost in our advocacy.

We equip and empower

We aim to equip and empower groups/organisations and individuals with the skills they need to advocate for themselves and their communities.

We are solutions and results oriented

We must be strategic in addressing the multiple challenges in rare disease. We want to see results for Australians living with a rare disease. This requires progressing long-term goals and being pragmatic. It’s important to maintain traction and continue celebrating easier wins and achieving results, while maintaining effective stakeholder relationships and partnerships.

We are credible and act with integrity

We acknowledge that our effectiveness is only as good as our credibility and integrity. We recognise the importance of maintaining RVA’s reputation as a representative, knowledgeable, evidence-based and well-respected national peak body. We ensure that our actions and words continue building RVA’s credibility.

Rare Voices Australia’s Chief Executive Officer, Nicole Millis, is pleased to accept a consumer role on the newly announced Implementation Advisory Group (IAG) for the Health Technology Assessment (HTA) Review Report following an expression of interest process. The Hon Mark Butler MP, Minister for Health and Aged Care, announced the IAG while delivering a speech at Parliament House. Read the Minister’s full speech on the Department of Health and Aged Care’s website.

The IAG will be chaired by renowned cardiologist and former Chair of the Pharmaceutical Benefits Advisory Committee, Professor Andrew Wilson. Two members have been appointed to represent consumer interests – one with expertise in rare diseases and the other with expertise in more common diseases.

RVA congratulates Professor Wilson and the other IAG members on their appointment:

• Dr Lorraine Anderson – Medical Director, Kimberley Aboriginal Medical Services (clinical representative)
• Dr Richard Mitchell – Head of Clinical Services, Kids Cancer Centre (clinical representative)
• Kirsten Pilatti – Chief Executive Officer, Breast Cancer Network Australia (consumer representative)
• Elizabeth de Somer – Chief Executive Officer, Medicines Australia (industry representative)
• Anne Harris – Deputy Chair, Medicines Australia Board (industry representative)

The Hon Mark Butler MP’s office has reached out to Rare Voices Australia, Patient Voice Initiative and Lymphoma Australia and asked us to distribute the following message regarding the Consumer Member Selection Criteria for the HTA Policy and Methods Review Recommendations Implementation Group.

Message from the Minister’s Office

“The Minister for Health and Aged Care, the Hon Mark Butler MP, is seeking to appoint members to the Health Technology Assessment (HTA) Review implementation group.

The purpose of this message is to invite applications for the appointment of two members of the implementation group to represent consumer interests. One member will have expertise in rare diseases and the other will have expertise in more common diseases.

Below is the selection criteria that will be used to assess applications.

Consumer Member Selection Criteria

• Demonstrated high level of knowledge of Australian HTA policy and methods and the context for which HTA policy is developed and implemented.
• Comprehensive knowledge of the Accelerating Access to the Best Medicines for Australia Now and in the Future recommendations.
• Demonstrated ability to work collaboratively with other consumer organisations and stakeholders, including prioritising collective consumer needs and equity.
• Demonstrated capacity to confidently bring consumer lived experience and perspectives forward in robust discussions with other stakeholders who may have different views.
• An understanding of the principles of access and equity in allocation of health resources within a universal health system.
• Ability to prioritise attendance at implementation group meetings (in person or virtually) and prepare for discussions and activities as required; this includes working with other consumer members, participating in broader feedback activities to patient/consumer networks, potentially comprehending high levels of written content in short time frames, and stakeholder engagement.
• Good communication and interpersonal skills including respect for the views of other people and organisations, and the ability to listen and take part in constructive debate.

Expressions of Interest

Expressions of interest (no longer than 1 page) addressing the selection criteria should be received by close of business 11 November 2024. Please email your application to [email protected]. All applications addressing the selection criteria will be considered by the Minister.

Successful candidates will be notified as soon as possible.”

Rare Voices Australia (RVA) continues our systemic advocacy for the estimated two million Australians living with a rare disease, the majority of whom meet the Australian Government’s definition for disability. RVA estimates that over 100,000 National Disability Insurance Scheme (NDIS) participants live with a rare disease comorbidity.

With so much going on in disability reform, RVA would like to highlight two resources released recently, which are designed to help the sector and people living with disability stay abreast of the government’s disability reform activities and consultation opportunities.

1. Disability Reform Roadmap (Disability Ministers Reform Council)

The Disability Reform Roadmap highlights the key actions all governments will take in 2024 and 2025 to build the foundations and deliver on the commitments for disability and NDIS reform. It includes the responses to the NDIS Review, implementation of Disability Royal Commission regulations and review of Australia’s Disability Strategy.

2. National Disability Insurance Scheme Commission’s Regulatory Reform Roadmap

The NDIS Commission’s Regulatory Reform Roadmap lays out the timetable for regulatory changes to improve the quality and safety of support being delivered to NDIS participants.

Important Dates for the Rare Disease Sector to Be Aware Of:

• 3 November – Engagement regarding the final draft of the National Carer Strategy document closes
• 6 November – NDIS Pricing Review: Rural, Regional and Remote
• 30 November – Engagement on the Foundational Supports (General) closes

October Highlights: Rare Disease Disability Advocacy

National Disability Insurance Scheme Rare Disease Disability Dashboard

RVA’s collaboration with the NDIS Scheme Actuary continues to progress the development of the Rare Disease Disability Dashboard report, which aims to improve data visibility and understanding of rare disease disability impacts within the NDIS. This initiative marks an essential step in identifying specific needs across these diverse groups and will enhance RVA’s capacity to advocate for effective, data-driven support models for people living with rare diseases. RVA will continue to work with the NDIS and RVA Partners to improve data capture and reporting for rare disease disabilities.

National Disability Insurance Scheme Workforce Capability and Culture Co-Design Working Group

RVA was pleased to be invited to participate in the NDIS Workforce Capability and Culture Co-Design Working Group. This multi-stakeholder group includes Disability and Carer Representative Organisations (DCROs), NDIS managers and leaders, and people with disabilities. RVA’s advocacy within the group focuses on ensuring that NDIS staff are trained to understand the complexities of rare diseases.

National Carer Strategy

RVA is contributing to the final review of the National Carer Strategy document and is urging the Department of Social Services (DSS) to incorporate RVA’s feedback in the final National Carer Strategy to ensure a comprehensive support framework for rare disease carers.

Foundational Supports Strategy

The consultation process for the Foundational Supports Strategy for General Supports is underway and open until 30 November 2024. This initiative is designed to bridge support for individuals who do not meet NDIS eligibility and is focused on navigational support to provide people with disability information, capacity building and advocacy skills to connect with mainstream and community services.

On 23 October, RVA met with The Social Deck to highlight the core issues impacting the rare disease disability community. RVA’s advocacy focus aims to ensure that foundational supports include sustaining rare disease peer support networks, reflect the specialised needs of people with rare diseases, and that these supports are adequately resourced and sustained, and accessible in regional, rural and remote areas.

As part of our submission to DSS Foundational Supports, we want to highlight existing rare disease programs and resources that help people living with rare disease and their families/carers to connect with services and supports.  Please email [email protected] if you would like to contribute to this Submission.

As disability reform progresses, RVA remains committed to advocating for a responsive, transparent, and inclusive system that genuinely supports the rare disease community.

Rare Voices Australia (RVA) remains committed to advocating for the estimated two million Australians living with a rare disease, the majority of whom meet the Australian Government’s definition of living with a disability. RVA continues to engage directly with the National Disability Insurance Agency to ensure the needs of NDIS participants with a rare disease-related disability are considered.

The September 2024 rare disease disability advocacy update focuses on recent NDIS legislative changes and the commencement of the developments in foundational supports.

National Carer Strategy

In recognition of the importance of carers to the lives of people living with rare disease and disability impacts, RVA provided a submission to the Department of Social Services consultation on the National Carer Strategy. Read RVA’s Submission.

National Disability Insurance Scheme Reform Agenda

Following the passing of the NDIS Amendment (Getting the NDIS Back on Track No. 1) Bill 2024 on 5 September 2024, several important changes to the NDIS are now underway. The first tranche of changes come into effect on 3 October 2024. RVA has engaged extensively with the NDIS on these reforms through a range of mechanisms, including:

• Our monthly RVA/NDIS Stakeholder Engagement meetings with the General Manager of Co-design and Engagement, held on 12 September
• The bi-monthly Neurodegenerative, Palliative Care, and Rare Disease (NPR) Advisory Group. Communiques from the NPR Advisory Group meetings are available on the NDIS website, with the latest meeting held on 24 September

RVA supports the need for a sustainable and robust NDIS and continues to raise concerns about the impact of recent changes, particularly for people living with complex conditions and rare diseases, priority populations, and people living in regional, rural and remote locations. RVA has expressed disappointment over the lack of thorough, transparent and inclusive co-design processes in developing the NDIS Supports Lists.

Rare Voices Australia Rare Disease Disability Round Table

On 25 September, RVA’s Virtual Rare Disease Disability Round Table was attended by almost 20 RVA Partner groups/organisations to discuss the key NDIS legislative changes and the impacts on the rare disease community. The group discussion included the yet-to-be-released final S10 NDIS Lists of Supports (what you can and cannot use NDIS funds for), capping of plan spends per plan periods, plan management determinations, and changes to change of circumstances requests. A copy of the slide deck is available to download. RVA remains concerned about the implications of these developments for people living with rare diseases and disabilities. Remain informed about the changes via the NDIS’ website. A list of  Frequently Asked Questions is also located on the website.

Several people have expressed concerns about the impact of these changes. RVA understands that many aspects of the NDIS will not change immediately and we will continue advocating on behalf of the rare disease community. RVA acknowledges that this is a time of significant change in disability sector reform and that some people may find this challenging and distressing. We encourage you to reach out to your support team and access services as needed. Download these Digital Mental Health Factsheets for more information and a list of resources.

National Disability Insurance Scheme Actuary

RVA met with the NDIS Scheme Actuary on two occasions this month in our efforts to progress the development of an NDIS Rare Disease Disability Dashboard report. While we are grateful that some smaller dashboard reports are progressing for some specific rare diseases, there is still much work to be done.

Foundational Supports Strategy

RVA has actively participated in the ongoing consultation process for the Foundational Supports Strategy, which commenced on 2 September 2024 and remains open until 30 November 2024. This initiative aims to enhance the support system for people with disabilities who are not eligible for the NDIS.

RVA welcomes the government’s efforts to include a mix of general and targeted supports but has voiced concerns over foundational supports potentially being underfunded, especially in regional areas, and the long-term sustainability of these reforms, emphasising the risk that people with rare disease disabilities may fall through the cracks if mainstream services and foundational supports are not adequately resourced. RVA will continue to engage with state governments to advocate for comprehensive disability reform through the development of the Foundational Support Strategy.

RVA encourages all stakeholders to remain informed about these developments and to actively participate in advocacy efforts. Your voices are crucial in helping to shape policies that affect the rare disease community. You can find more information regarding engagement and consultation opportunities below:

Foundational Supports

Consultations calendar and registrations

Thanks to RVA’s Disability Advocacy Manager, Fiona Lawton, and Education and Advocacy Manager, Louise Healy, for continuing to lead this important work on behalf of RVA.

Rare Voices Australia (RVA) congratulates the Australian Commission on Safety and Quality in Health Care on the revised Australian Framework for National Clinical Quality Registries 2024 (The Framework). RVA is pleased to see the overall simplification of advice in The Framework, particularly across the operating principles, which acknowledge the different settings where clinical quality registries (CQR) operate.

As the national peak body for Australians living with a rare disease, RVA lodged a Submission and participated in the consultation process for the Framework for Australian clinical quality registries Second Edition – consultation version. RVA’s Submission was guided by, and aligns with, the priorities, actions and implementation steps in the Australian Government’s National Strategic Action Plan for Rare Diseases.

Specifically, RVA welcomes The Framework’s:

• removal of prescriptive advice, particularly around specific feasibility criteria for CQR, which was highlighted in RVA’s Submission as a potential barrier to developing CQR for rare diseases
• strong mention of consumer and community involvement throughout The Framework. This includes mention of specific roles for consumers and community in CQR design, governance and reporting, and the inclusion of consumer representatives as members of the operational group responsible for implementation of CQR
• recognition of the need to diversify data sources for CQR, including collection of data direct from consumers. This is particularly important in rare disease where data is limited and siloed
• practical checklists linked to each section throughout The Framework
• positioning of CQR as part of a learning health system

Download the Revised Australian Framework for National Clinical Quality Registries 2024

Download The Framework and supporting materials on the Australian Commission on Safety and Quality in Health Care’s website.

Background

Australia’s national CQR collect, analyse and report information about the care and outcomes being delivered by health service organisations. They serve as a key driver of ongoing improvements in the safety and quality of the care provided to Australian consumers, including Australians living with a rare disease.

In rare disease, low prevalence, high burden of disease, high levels of unmet need and variations in care, met with limited treatment options, make registries vital instruments for informing better outcomes. Nonetheless, in Australia, data for most rare diseases is not captured in either health information systems or registries,² and there is no coordinated strategy to collect, measure, build and translate data that does exist.

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.¹

References

1. Australian Government Department of Health. National Strategic Action Plan for Rare
   Diseases. Canberra; 2020. 63 p. Available from:
   https://www.health.gov.au/resources/publications/national-strategic-action-plan-for-rare-diseases?language=en
2. Lacaze P, Millis N, Fookes M, Zurynski Y, Jaffe A, Bellgard M, Winship I, McNeil J, Bittles AH.
   Rare disease registries: A call to action. Int Med J. 2017;47(9):107579. Available from:
   https://doi.org/10.1111/imj.13528

On 29 August 2024, the Health and Medical Research Office (HMRO), held a public webinar to share updates to the Medical Research Future Fund monitoring, evaluation and learning strategy (the Strategy). The Strategy outlines the framework for assessing the performance of the Medical Research Future Fund (MRFF) to support its continued improvement. The framework is set around 8 measures of success under 5 impact measures.

Rare Voices Australia (RVA) thanks the HMRO for an informative and interactive webinar and welcomes the changes to the Strategy. Informed by broad stakeholder consultations, specific changes to one ‘impact measure’ and two ‘measures of success’ highlight the importance of beneficial change to, and embedding, health policy. RVA also welcomes the addition of consumer involvement indicators and measurable outputs, which aim ‘to capture the level of involvement of relevant consumers throughout the research pipeline, from priority setting, co-design through to dissemination and translation’, and the addition of performance indicators and associated measurable outputs for assessing how MRFF-funded projects are targeting priority populations.

Rare Voices Australia’s Input

As the national peak body for Australians living with a rare disease, RVA has been invited to discussions with the HMRO and provided feedback on the evaluation of specific MRFF grant initiatives, including the Genomics Health Futures Mission. During these discussions, RVA emphasised the importance of building evidence to inform policy change that improves the health and wellbeing of Australians living with a rare disease. We are pleased to see this picked up in the Strategy.

Updates to the Strategy align with the Australian Government’s National Strategic Action Plan for Rare Diseases, which highlights the need for a person-centred approach to rare disease research, under Research and Data (Pillar 3).

During the webinar, Research Administration Officers mentioned that one of the main data capture methods for tracking impact of research funding moving forward is a performance indicators survey (which is relaunched every six months). This survey was open to all stakeholders involved in research, including consumers. RVA encourages rare disease organisations involved in partnerships with researchers funded by the MRFF to subscribe to the MRFF newsletter to hear about future opportunities to contribute to monitoring and evaluation of MRFF-funded research.

Rare Voices Australia (RVA) welcomes the publication of the Health Technology Assessment (HTA) Policy and Methods Review final report (the HTA Review report), Accelerating Access to the Best Medicines for Australians Now and into the Future.

The Hon Ged Kearney MP, Assistant Minister for Health and Aged Care, launched the HTA Review report in Canberra on 10 September. The Assistant Minister acknowledged the extensive consultation and stakeholder input that informed the HTA Review report, emphasising the role of the consumer representatives in the HTA Review Reference Committee (the Committee). The importance of extensive multistakeholder consultation was also reiterated.

As the national peak body for Australians living with a rare disease, overall, RVA is cautiously positive about the HTA Review report which contains 50 recommendations. The Assistant Minister emphasised the Australian Government’s commitment to forming a multistakeholder implementation group to drive implementation of the HTA Review report’s recommendations, which were noted as including both recommendations for sensible and specific changes as well as more visionary reforms.

Positive Aspects for People Living with A Rare Disease*

The HTA Review report must be considered in its entirety with the Committee noting that the recommendations should be considered as a package of reforms. Throughout the final HTA Review report, there is repeated emphasis on:

• Therapies to address high unmet clinical need (this applies to most rare diseases)
• Improving time to access life-saving therapies for ultra rare diseases
• The use and collection of real-world evidence to support HTA decision-making
• More flexible managed entry and resolution pathways
• The needs of small patient populations
• Establishment of a bridging fund for fast access in specific situations
• Development of an explicit values framework
• Horizon scanning and proactive pre-HTA processes to identify and introduce health technologies where there is high unmet clinical need
• Specific measures to make HTA more fit for purpose and timely for highly specialised therapies
• Commitment to reducing resubmissions and a more streamlined yet flexible HTA system
• Recognition of the need to measure and continuously improve the impact of these changes to ensure timely, consistent and equitable access

The final HTA Review report and several recommendations also contribute to ensuring a streamlined and proportionate HTA process that is easier for stakeholders to navigate and follow.

We congratulate the Committee for producing a nuanced and considered set of recommendations. Ann Single, RVA Scientific and Medical Advisory Committee member, was a consumer representative on this Committee.

*Please note: This is not an exhaustive list. Download the final HTA Review report to read the recommendations in full.

Enhanced Consumer Engagement Process Recommendations

RVA also welcomes the publication of the recommendations from the Enhanced Consumer Engagement Process, developed by a consumer-led multi-stakeholder Co-design Working Group. Enhance HTA: An Enhanced Consumer Engagement Process in Australian Health Technology Assessment – A Report of Recommendations acts as a companion document to the HTA Review report and includes 10 recommendations to align and elevate the focus on consumer engagement.

RVA was pleased that the publication of these reports as companion documents highlights the importance of consumer input into HTA. We congratulate the Co-design Working Group, which included RVA’s Chief Executive Officer, Nicole Millis, for the strong and clear recommendations in the report.

Implementation of the Recommendations

While RVA is cautiously positive about the HTA Review report, we note some of the recommendations can be further strengthened from a rare disease perspective. RVA has raised this directly with the Minister for Health and Aged Care’s office.

RVA also welcomes the commitment of the government to form an independent, multistakeholder group to oversee implementation. RVA will be advocating for very strong rare disease and consumer expertise on this group.

Rare Voices Australia Partner Forum

RVA will be facilitating our inaugural RVA Partner Forum on 24 September for RVA Partner groups/representatives. The purpose of the session is to:

• Speak in more detail about the recommendations relevant to Australians living with a rare disease
• Hear your thoughts on both reports and their recommendations

Details

Date: Tuesday, 24 September 2024
Time: 12pm (AEST)

We will share more information as soon as possible via email and post in the private Facebook group for RVA Partner groups/organisations.

Acknowledgements

RVA thanks the HTA Review Reference Committee (the Committee) and the Enhanced Consumer Engagement Codesign Working Group for their efforts and carefully considered approach to this important work. Additionally, we thank the many stakeholders across the rare disease sector for their strong contributions to both processes.

As the national peak body for Australians living with a rare disease, RVA has ensured the needs of the estimated two million Australians living with a rare disease have been considered throughout these processes. We also acknowledge the rare disease-specific expertise on the Committee and RVA’s consumer representation on the Enhanced Consumer Engagement Codesign Working Group.

This work was informed by, and builds on, The New Frontier – Delivering better health for all Australians. The National Strategic Action Plan for Rare Diseases is also referenced in the final HTA Review report.

As the lead consortia member on The Navigator Project, which is funded by the Department of Health and Aged Care, Rare Voices Australia (RVA) is excited to share the first progress update since the project commenced in July 2023. RVA would like to acknowledge our consortia partners, the Sydney Children’s Hospitals Network, the Perth Children’s Hospital, and our data sharing partners, Crohn’s Colitis Australia, Mito Foundation and Tuberous Sclerosis Australia for their ongoing dedication to this important work. Background information about The Navigator Project.

Interim Evaluation Findings: January to April 2024

The Navigator Project interim findings reported below are based solely on data from consumer-led organisation-based telehealth services and the RARE Helpline. Ethics approvals for data sharing from the hospital-based Nurse Navigator Programs (NNP) were not in place during the evaluation period (January to April 2024). It is important to note, these findings are based on limited available data, and strong conclusions cannot be made at this early stage of The Navigator Project.

From January to April 2024, a total of 155 people contacted the telehealth services. Almost 60% of service users were individuals living with a rare or complex disease, 40% were family members or carers and the remainder were health professionals. Of those who reported their jurisdiction and rurality status, 71% lived in New South Wales, Victoria or Queensland. Importantly, 44% lived in a rural, regional or remote area. Given only 27% of Australians live outside major cities, this suggests these telehealth services may be reaching a higher proportion of people in regional, rural, and remote Australia. More data is needed to confirm this observation.

The three most common reasons individuals contacted the services were:

• to get information and/or resources about a disease
• to request access to health services or health system navigation and,
• requests for social support

On average, telehealth service staff recorded 3 interventions for each call, and 115.9 minutes responding to each individual request.

Lessons Learned and Updates from Each Service

RARE Helpline

• Most RARE Helpline service users are diagnosed with a rare disease for which there is no known Australian support group.
• A significant portion of time spent responding to RARE Helpline service users is related to provision of emotional support and reducing overwhelm and feelings of isolation through listening to people’s stories and validating and normalising their experiences.
• Additionally, the Helpline works to build users knowledge, confidence and capacity to self-advocate in the different support systems they need to navigate.
• Data from the RARE Helpline service has highlighted key gaps, including gaps for specific disease areas that RVA advocacy staff were able to feed back to the relevant community organisation.
• Gaps and needs highlighted by the RARE Helpline are actively informing development of the Rare Awareness Rare Education (RARE) Portal.

Consumer-led Organisation Based Telehealth Services

Symptom management support and advice on access to health services or health system navigation were the most common reasons for contact among the consumer-led organisations. Compared with interventions provided to RARE Helpline service users, more users of these disease-specific telehealth services were provided with symptom management and treatment-related information. Consumer-led organisations  have reported that being part of The Navigator Project has added value to their services. All consumer-led organisations have incorporated a user experience survey based on the survey developed for the RARE Helpline and agreed to collect additional data/refine data from their services to support evaluation of The Navigator Project. This includes additional demographic data, which will be used to support improvements that better meet the needs of their communities.

Hospital-based Nurse Navigator Programs

Since June 2023, the NNPs have been developing their service models and in April 2024 they soft launched their services. Ethics was approved in July 2024 and data sharing with RVA for evaluation of The Navigator Project has commenced. Data from the NNPs will be included in the next progress update towards the end of 2024.

Key Milestones to Date

Background: The Navigator Project

The objectives of The Navigator Project are to: 

• Support people living with rare and complex diseases, their families and carers.
• Support people to improve their health literacy and engage with the health system.
• Link people with existing health services and/or professionals to access specialised or targeted support to manage complex care needs.
• Target telehealth nurse-led support for people with rare and complex conditions, where there is limited information on their condition or access to services, where they are in situations of acute need, or where they are unable to self-manage their condition.
• Increase the potential for system improvement as the data collection and evaluation components of The Navigator Project will generate evidence to guide future government investment for service navigation.

The Navigator Project involves implementing two models of patient navigation support and collecting data from a third model of telehealth services delivered through three consumer-led rare and complex disease organisations.

Telehealth Services

1. The RARE Helpline is a national, non-disease specific telehealth service that aims to provide timely access to information and answer key questions from people living with a rare and/or complex disease. The RARE Helpline is staffed by RVA personnel, including those with qualifications/training in psychology, social work and Mental Health First Aid.

2.Telehealth Nurse Service Navigation Trial Sites: Two discrete non-disease specific services, attached to the clinical genetic services of the Sydney Children’s Hospitals Network (the Rare Kids Navigator Project) and Perth Children’s Hospital (Rare Care Centre Navigator Project). The telehealth nurses provide intensive care coordination and, in some instances, case management.

3. Three consumer-led rare and complex disease organisations providing telehealth nurse services:

• Crohn’s and Colitis Australia
• Mito Foundation
• Tuberous Sclerosis Australia

Data from each of these models will facilitate an evaluation of the impact and benefit to individuals, families, carers, the health system, and the overall cost-effectiveness and sustainability of each model.