Hi RVA Supporter,

Earlier this month, Rare Voices Australia’s (RVA) Education and Advocacy Manager Louise Healy and I travelled to Canberra where we engaged in meetings with several parliamentarians and/or their advisers, including the office of the Hon Mark Butler MP, Minister for Health and Aged Care; the office of the Hon Bill Shorten MP, Minister for the National Disability Insurance Scheme; Senator Jordon Steele-John, Senator for Western Australia; and Dr Mike Freelander MP and Dr Monique Ryan MP, Co-Chairs of the Parliamentary Friends of Australians Living with Rare Diseases. In-person meetings enable RVA as the national peak body to have more robust conversations to ensure the best outcomes for Australians living with a rare disease, particularly heading into a Federal Election year.

Final Reports Published: Health Technology Assessment Policy and Methods Review and Enhanced Consumer Engagement Process

While in Canberra, Louise and I attended Medicines Australia’s PharmAus conference where the Hon Ged Kearney MP, Assistant Minister for Health and Aged Care, launched 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 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 Assistant Minister specifically named each consumer representative, including Ann Single who is also a member of RVA’s Scientific and Medical Advisory Committee (SMAC). 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. RVA has noted that some of the recommendations can be further strengthened from a rare disease perspective and have raised this feedback directly with the Minister for Health and Aged Care’s office and will continue doing so.

The Assistant Minister also announced the release of the recommendations from the Enhanced Consumer Engagement Process, developed by a consumer-led multi-stakeholder Co-design Working Group. RVA welcomes the publication of Enhance HTA: An Enhanced Consumer Engagement Process in Australian Health Technology Assessment – A Report of Recommendations. This is a companion document to the HTA Review report and includes 10 recommendations to align and elevate the focus on consumer engagement. Again, the Assistant Minister acknowledged by name the consumers of the Co-design Working Group. I was privileged to be one of the five consumer members on the Co-design Working Group.

RVA thanks both the Committee and the Codesign Working Group for their efforts and carefully considered approach to this important work. Thank you to the many stakeholders across the rare disease sector for their strong contributions to both processes.

Rare Disease Disability Advocacy Update: September 2024

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 estimates that 100,000 National Disability Insurance Scheme (NDIS) participants live with a rare disease comorbidity and 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. Read the September Rare Disease Disability Advocacy Update in full on RVA’s website.

Several people have expressed concerns about the impact of recent NDIS 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. We acknowledge that this is a time of significant change in disability sector reform and that some people may find this challenging and distressing. We encourage NDIS participants living with a rare disease to reach out to your support team and access services as needed. You can also access these Digital Mental Health Factsheets for more information and resources. The RARE Helpline also provides service navigation support to Australians living with a rare and complex disease.

Inaugural Rare Voices Australia Partner Forum

Thank you to everyone who attended our first RVA Partner Forum last week! These forums respond to feedback from RVA Partner groups/organisations that completed our Stakeholder Survey earlier this year. As was the case with the inaugural RVA Partner Forum, these meetings provide representatives from RVA Partner groups/organisations with the opportunity to showcase their diverse expertise and share learnings, insights, challenges and more with the group. RVA will schedule our next forum for early December and communicate the time and date to all RVA Partner groups/organisations as soon as possible.

Australian Government Bans Genetic Discrimination in Life Insurance

The Australian Government has announced that it will legislate to completely ban the use of genetic test results in life insurance underwriting in line with recommendations of a report authored by Dr Jane Tiller and Professor Paul Lacaze. As part of the announcement, the Australian Government said the ban will not be subject to any financial limits, caps or exceptions, and will be reviewed after five years. RVA will update stakeholders once the legislation has been drafted and implemented. Congratulations to Dr Tiller and Professor Lacaze, who are both members of RVA’s SMAC. RVA is proud to have played a role in this important work that impacts Australians living with a rare disease via our Research Partnerships Program and ongoing advocacy.

Welcome to Our New RVA Directors!

A warm welcome to Andre Carvalho and Roxane Marcelle-Shaw who have joined RVA’s Board of Directors. As you will read in their biographies below, Andre and Roxane add a wealth of expertise to the RVA Board, in addition to having lived experience of rare disease. I look forward to working with you both moving forward.

Nicole Millis
Chief Executive Officer
Rare Voices Australia

Personal Story of the Month

Natasha shares her experience with eventually being diagnosed with Immune-Mediated Necrotizing Myopathy (IMNM), a type of rare myositis. She writes about both the shock and relief of receiving the diagnosis.

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 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.

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. Read the full article on RVA’s website for more information.

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. Read the update in full on RVA’s website.

A warm welcome to incoming RVA Director, Andre Carvalho! With over 25 years of senior executive experience in the United Kingdom and Australian not-for-profit sectors, Andre Carvalho currently serves as the Chief Executive Officer of CF Together, a national organisation dedicated to advancing progress for people living with cystic fibrosis (CF). Throughout his career, Andre has been dedicated to addressing complex challenges and driving impactful change, serving various causes, including mental health, bereavement, disability, and health and well-being. Andre's professional journey is informed by his lived experience with CF, providing him with a unique perspective for the CF and rare conditions communities. Andre also volunteers his time as a non-executive director at Lort Smith Animal Home, a role that allows him to apply his strategic vision and governance skills to support one of Australia’s most respected animal welfare organisations. Andre holds a Bachelor of Arts from London South Bank University and is a graduate of the Australian Institute of Company Directors (AICD) Company Directors Course™.

A warm welcome to incoming RVA Director, Roxane Marcelle-Shaw! Roxane has held a variety of executive roles and statutory appointments over 25 years in the Australian Capital Territory, Commonwealth and New South Wales public sectors. She was responsible for designing and delivering regulatory services, including in the health, disability, aged care, housing and professional services sectors. Roxane concluded her public service career in 2024 as Chief Executive Officer of the Professional Standards Authority, during which time, she also held additional roles as Chair of the New South Wales Chapter of the Australia and New Zealand School of Government (ANZSOG) auspiced National Regulators Community of Practice and as a statutory member of the Occupational Therapy Board of Australia. She now works as an advocate and independent adviser on regulatory practice and governance, risk management, professional standards and consumer protection. Roxane lives with a rare form of Ehlers-Danlos Syndrome, a connective tissue disorder causing severe fragility of her skin, blood vessels and organs, and joint instability.

The Australian Government has announced that it will legislate to completely ban the use of genetic test results in life insurance underwriting following recommendations of a report (Final Stakeholder Report of the Australian Genetics and Life Insurance Moratorium: Monitoring the Effectiveness and Response (A-GLIMMER) Project) authored by Dr Jane Tiller and Professor Paul Lacaze. As part of the announcement, the Australian Government said the ban will not be subject to any financial limits, caps or exceptions, and will be reviewed after five years. Read Monash University’s media release.

RVA will update stakeholders once the legislation has been drafted and implemented. Congratulations to Dr Tiller and Professor Lacaze, who are both members of RVA’s Scientific and Medical Advisory Committee. As the national peak body for Australians living with a rare disease, RVA is proud to have played a role in this important work that impacts Australians living with a rare disease via our Research Partnerships Program and ongoing advocacy.

RVA and The Kids Research Institute Australia (formerly Telethon Kids Institute) are conducting a Rare Disease Research Priority Setting Partnership Project. This project aims to identify and prioritise the 10 most important unanswered research questions for the future of rare disease research in Australia. The project is taking place over the next 12 months and involves 3 stages:

Stage 1: Online survey that asks you about your most important research questions or concerns about rare disease – the survey is live now!

Stage 2: Follow-up online survey based on responses to the previous survey

Stage 3: An online consensus workshop where participants will discuss and prioritise the Top 10 most important unanswered research questions for the future of rare disease research in Australia

Complete the survey and visit The Kids Research Institute Australia's website to learn more.

The Rare Disease Project ECHO® Clinical Community of Learning Practice is a continuing professional development activity delivered via interactive webinars. The webinars start with a presentation on a specific topic from an expert, followed by reflective discussion, which all participants are encouraged to join.

Upcoming Rare Disease Project ECHO® sessions in 2024:

17 October: Achieving Early Diagnosis

7 November: Innovative Clinical Trials Access Models

5 December: Clinical Yarning

A Mental Health and Wellbeing session was held on 19 September.

Register to attend via this web page.

Joining the Rare Disease Project ECHO® community can have many benefits, including establishing referral pathways across Australia to reach rare disease subject matter experts and supporting with the diagnosis and management of rare diseases. 

National Strategic Action Plan for Rare Diseases

The Australian Government's National Strategic Action Plan for Rare Diseases (the Action Plan) was launched in February 2020 by the Minister for Health with bipartisan support. You can access the Action Plan via the Department of Health and Aged Care's website and a suite of summary materials via RVA's website.

RVA's Resources and Information Officer, Dr Amanda Choo, was pleased to speak at the Human Genetics Society of Australasia’s (HGSA) South Australia Branch Symposium. RVA thanks HGSA for inviting us to attend and participate as the national peak body for Australians living with a rare disease. The theme of the Symposium was, The Masked Origins in Genetic Disease.

In addition to speaking about advocating for the best outcomes for Australians living with a rare disease, Amanda participated in The Masked Origins in Genetic Disease panel discussion. It was great to see rare genetic diseases highlighted at the Symposium, including presentations about the Pathogenic Evaluation of Recalcitrant Variants by SYStematic Transactivation (PERSYST) Study and NewsbornsInSA, which are both RVA research partnerships.

RVA always appreciates the opportunity to showcase our work and speak with different stakeholders. Additionally, RVA welcomes the increasing consumer engagement and co-design in rare disease research, which was reflected in the presentations throughout the Symposium. It was also fantastic to see the genuine excitement and support from attendees about the Rare Awareness Rare Education (RARE) Portal and RARE Helpline.

RVA's Education Project Officer, Jess Brooklyn, was pleased to present at the 17th National Rural Health Alliance Conference about the Rare Disease Resources for Regional, Rural and Remote Communities Collection and the RARE Helpline. Thank you to the National Rural Health Alliance for the invitation to share RVA’s work!

A newborn bloodspot screening (NBS) expansion update subscription service is now available via the Department of Health and Aged Care's website. You can sign up via the link to be notified when new NBS information is shared on the Department of Health and Aged Care’s website. By signing up, you will be among the first to be notified of NBS expansion developments. Please feel free to share this service with your communities. If you have questions about this service, or on NBS expansion more broadly, please reach out to the NBS team: NBS@health.gov.au.

Health Translation Queensland has launched a Clinical Trials Hub (the Hub), an online resource that aims to support researchers and clinical trial teams throughout the clinical trials process. The Hub consolidates clinical trials resources, tools and information into one central platform. It also features a My Clinical Trial Planner, which offers personalised guidance, resources, and collaboration features to streamline and support clinical trials from start to finish. The Hub has been created in collaboration with clinical trials experts from Queensland. Learn more at the Clinical Trials Hub website.  

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. Learn more via RVA's website.

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 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 of the Australian Government’s National Strategic Action Plan for Rare Diseases. Read more about The Framework's relevance to Australians living with a rare disease on RVA's website.

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases, co-authored by RVA Scientific and Medical Advisory Committee member, Clin/Prof Gareth Baynam was published in the Orphanet Journal of Rare Diseases. There is currently no international alignment on how to define and describe rare diseases. Developed by a global panel of rare disease experts, this article presents a core definition and descriptive frameworks for rare diseases, aimed to drive international recognition and improve health outcomes for people living with a rare disease. Read the full journal article on Orphanet Journal of Rare Diseases website.