Rare Voices Australia is pleased to launch the ‘Rare Disease Resources for the Aboriginal and Torres Strait Islander Community‘ collection.
This webinar is intended for peak bodies, organisations, and health care professionals who work with the Aboriginal and Torres Strait Islander community, RVA’s Partner groups/organisations, and rare disease groups/organisations that wish to engage the First Nations community.
Rare Voices Australia is pleased to launch the ‘Rare Disease Resources for the Regional, Rural, and Remote Community‘ collection.
This webinar is intended for peak bodies, organisations, and health care professionals who work with the regional, rural, and remote community, RVA’s Partner groups/organisations, and rare disease groups/organisations that wish to engage the regional, rural, and remote community.
Rare Voices Australia is pleased to launch the ‘Rare Disease Resources for the Multicultural Community’ collection.
This webinar is intended for peak bodies, organisations, and health care professionals that work with the multicultural community, RVA’s Partner groups/organisations, and rare disease groups/organisations that wish to engage the multicultural community.
As the national peak body for Australians living with a rare disease and as part of our Education Program, Rare Voices Australia (RVA) hosted a webinar on 12 July 2023 to provide further detail about the recent changes made to newborn bloodspot screening (NBS) and their impact on Australians living with a rare disease. Read the Australian Government’s media release on the Department of Health and Aged Care’s website for more information about the changes. The findings from the Consultation Survey can also now be downloaded.
For the first time in 60 years, Australia has an agreed national list of NBS conditions and there is specific funding to achieve consistency across Australia. Additionally, these changes cement Australia as a world leader in NBS. As outlined in the Australian Government’s National Strategic Action Plan for Rare Diseases, early diagnosis is critical for better outcomes as it enables the best immediate treatment and care.
- Hon Mark Butler MP – Minister for Health and Aged Care
- Senator the Hon Anne Ruston – Shadow Minister for Health and Aged Care
- Dr Mike Freelander MP – Chair, Standing Committee on Health, Aged Care and Sport; and Co-Chair, Parliamentary Friends of Rare Diseases
- Lisa Schofield PSM – First Assistant Secretary, Cancer, Hearing and Chronic Conditions, Department of Health and Aged Care
- Dr Kevin Carpenter – Chief Executive Officer, Human Genetics Society of Australasia
- Nicole Millis – Chief Executive Officer, RVA
- Louise Healy – Education and Advocacy Manager, RVA (webinar host/Q&A moderator)
This Webinar Covered:
- Expanding NBS and the Australian Government’s objectives
- Progress made regarding NBS
- States/NBS programs’ perspectives
- NBS public consultation/follow up consultation findings; actions taken; next steps and future-proofing screening
- Reflections on NBS advocacy
- The importance of these changes for Australians living with a rare disease
Why Changes to Newborn Bloodspot Screening Are Important
NBS is an important program that supports the earliest possible diagnosis of some rare diseases. The rare disease community has been calling for increased equity, timeliness and consistency of screening for several years.
RVA has been highlighting the need for increased sustainability, equity, transparency and consistency of NBS through targeted and informed advocacy at both the Commonwealth and state levels. We will continue to work alongside all governments as they continue to expand NBS programs.
Welcome to the Applying Mental Health First Aid in a Rare Disease Context Resource.
This resource has been designed to assist those working with the rare disease community with Mental Health First Aid.
Developed in consultation with people living with a rare disease, the Companion Resource complements Mental Health First Aid training.
Mental Health First Aid training is not specific to the rare disease experience, so this companion resource will focus on:
- Understanding mental health and wellbeing in the rare disease context.
- Applying Mental Health First Aid in the rare disease community, including promoting awareness of available resources and referral pathways.
- The role of rare disease organisations in supporting the mental health of personnel and communities.
- Self-care and support for employees and volunteers working in rare disease organisations who are providing support to others.
Important: this resource does not provide advice or recommendations on mental health and wellbeing. Individuals are encouraged to consult with relevant health professionals when accessing or utilising mental health and wellbeing resources.
For immediate mental health assistance, click to go to Head to Health.
Equitable access to health technology is a key priority of the Australian Government’s National Strategic Action Plan for Rare Diseases. Rare Voices Australia (RVA) and the rare disease sector have been actively advocating for reform that makes health technology assessment (HTA) for rare disease therapies more fit-for-purpose.
Health Technology Assessment Policy and Methods Review
The HTA Policy and Methods Review (the HTA Review) is being conducted by the Department of Health and Aged Care and is an opportunity to ensure Australia’s HTA policy is constantly improving under evaluation.
Rare Disease Sector Webinar: Health Technology Assessment Policy and Methods Review
As part of RVA’s ongoing HTA advocacy, we encourage rare disease organisations/groups to participate in the HTA Review in ways that align with their capacity. To support this, RVA facilitated a webinar on Monday, 8 May 2023.
- Ann Single – HTA Policy and Methods Review Reference Committee
- Jo Watson – Chair, HTA Consumer Consultative Committee
- Nicole Millis – Chief Executive Officer, RVA
- Louse Healy – Education and Advocacy Manager, RVA (Host/Q&A Moderator)
This Webinar Covered:
- What is HTA?
- What is the HTA Review and why is it being done?
- How can consumers get involved in the HTA Review?
- The information, evidence and input the HTA Policy and Methods Review Reference Committee are seeking from consumers
- The enhanced consumer engagement process and an update on work already underway
- HTA and rare disease therapies
- Key messages aligned with the Action Plan
RVA has also created a companion resource for rare disease organisations/groups that is available to download inside the course.
Newborn bloodspot screening (NBS) is of critical importance to the rare disease community as it screens for rare pre-symptomatic conditions to enable early intervention. Australian states and territories have offered NBS since the 1960s, with more than 99% of babies screened in Australia each year,1 reflecting a high level of public trust in this important program. Genomic NBS has the potential to screen for many more rare conditions2 but genomic testing in the newborn stage is associated with ethical, legal and social complexities that need to be carefully considered and managed.3 The research programs presented in this course are designed to collect evidence on how new technologies can be used to expand NBS programs in rigorous and considered ways to safeguard public trust and ensure all Australian babies benefit from scientific innovations.
The National Strategic Action Plan for Rare Diseases highlights the importance of screening programs for the rare disease community, including ensuring screening programs can evolve with emerging science and technology.
Priority 2.2: Ensure diagnosis of a rare disease is timely and accurate
Action 2.2.1: Ensure all Australians have equitable access to a range of diagnostic tools and tests, providing the best chance of early and accurate diagnosis.
22.214.171.124. Ensure all existing screening and testing programs are sustainable and evolve in line with innovation over time.4
In 2022, the Medical Research Future Fund Genomics Health Futures Mission (MRFF-GHFM) announced several grants for genomics newborn screening research (Streams 2 and 3), with two objectives:
- “Enabling effective diagnosis in newborns of diseases caused by genetic mutations to support development of earlier and more effective interventions and treatments.”5
- “Conduct research addressing emerging ethical, legal and social issues associated with the governance of clinical and genomic datasets.”5
Additionally, research into improved diagnostic methods, including genomics, and the development and testing of new health technologies are key areas of need according to the International Rare Diseases Consortium Goals for 2017–2027.6
In this course, recipients of these MRFF-GHFM grants provide an overview of their research.
This course is ideal for:
- Members of the rare disease community interested in the role of genomics in the future screening of newborns in Australia.
- Those interested in different types of approaches to implementing genomics in NBS, including how different approaches may address complexities associated with genomic NBS.
- Those seeking a deeper understanding of the ethical, legal and social issues associated with genomics, genomic screening and genomic data collection
- The LINEAGE Project: Legal, Ethical and Social Issues in Genomic Data Governance – Prof Ainsley Newson PhD, Professor of Bioethics, Sydney Health Ethics
- NewbornsInSA: Newborn Screening Using Integrated Multi-omics in South Australia – A/Prof Karin Kassahn PhD, SA Pathology
- EpiGNs: A New Model for Genomic Newborn Screening Assessed at Population Scale in Victorian Infants – A/Prof David Godler PhD, Murdoch Children’s Research Institute
- Newborn GEN SEQ Trial: Newborn GENomic SEQuencing in Screening: Therapy Ready and Information for Life – Prof Bruce Bennetts PhD, Children’s Hospital at Westmead
- Genomic Newborn Screening for Personalised Lifelong Healthcare in Australian Babies – A/Prof Sebastian Lunke PhD, Head of Division of Genetics and Genomics, Victorian Clinical Genetics Service
- gEnomics4newborns: Integrating Ethics and Equity with Effectiveness and Economics for Newborn Screening – A/Prof Sarah Norris PhD, University of Sydney
- GenSCAN: The Genomic Screening Consortium for Australian Newborns – A/Prof Michael Gabbett, Queensland University of Technology
- Australian Government Department of Health and Aged Care. About Newborn Bloodspot Screening. [Internet]. 2022. [updated 20 October 2022] Available from: https://www.health.gov.au/our-work/newborn-bloodspot-screening/about-newborn-bloodspot-screening
- Downie L, Halliday J, Lewis S, Amor DJ. Principles of Genomic Newborn Screening Programs: A Systematic Review. JAMA Netw. [Internet]. 2021;4(7):e2114336. Available from: https://doi.org/10.1001/jamanetworkopen.2021.14336
- Levy HL. Ethical and Psychosocial Implications of Genomic Newborn Screening. International Journal of Neonatal Screening. 2021; 7(1):2. https://doi.org/10.3390/ijns7010002
- Australian Government Department of Health. National Strategic Action Plan for Rare Diseases. 2020. 63 p. Available from: https://www.health.gov.au/resources/publications/national-strategic-action-plan-for-rare-diseases
- Australian Government National Health and Medical Research Council. MRFF – 2021 Genomics Health Futures Mission Grant Opportunity. [Internet]. 2021. Available from: https://www.nhmrc.gov.au/funding/find-funding/mrff-2021-genomics-health-futures-mission-grant-opportunity
- International Rare Disease Research Consortium. Available from: https://irdirc.org/about-us/vision-goals/
RVA is leading the collaborative development of the Rare Awareness Rare Education (RARE) Portal for rare diseases. RVA is the national peak body for Australians living with a rare disease, advocating for the best outcomes for Australians living with a rare disease. One of RVA’s key strengths is our person-centred focus that sees us working with all key stakeholders, including governments, key peak bodies, researchers, clinicians and industry. This multi-stakeholder approach extends to the collaborative development of the RARE Portal, ensuring a robust and extensive consultation process remains central to its ongoing development.
The RARE Portal is one of the key deliverables of the Australian Government’s National Strategic Action Plan for Rare Diseases, the first nationally coordinated effort to address rare diseases in Australia.
The purpose of the RARE Portal sneak peek
The RARE Portal sneak peek is designed to provide all stakeholders in the rare disease sector with an update on the site’s development and the opportunity to provide input.
After completing this course, you will:
- Have a better understanding of what the RARE Portal is and the multi-stakeholder consultation process RVA has undertaken to date
- See the progress made on building and populating the site
- Have the opportunity to provide feedback via a form
Ahead of the Federal Election, Rare Voices Australia (RVA) was excited to welcome the Australian Labor Party’s (ALP) commitment, if elected, to invest in consistent and equitable newborn bloodspot screening (NBS). The ALP forming a majority government presents the rare disease sector with a timely opportunity to revisit the challenges and gaps with NBS that RVA has been raising with Commonwealth and state governments over the last two years.
RVA hosted a virtual NBS forum on Thursday, 16 June 2022. The forum brought together RVA Partners, NBS clinical and research experts, NBS policy experts and industry to discuss the importance of a consistent and equitable program, the role of national leadership, how the NBS program is changing and what these changes mean for the rare disease sector. Other topics included how Australia’s NBS program compares to international programs, emerging research in the NBS space, the role of genomics and the link between NBS, care and policy.
- Hon Ged Kearney MP, Assistant Minister for Health and Aged Care, Australian Labor Party
- Dr Mike Freelander MP, Member for Macarthur, Australian Labor Party
- Tiffany Boughtwood, Managing Director, Australian Genomics
- Dr Kevin Carpenter, Chief Executive Officer (CEO), Human Genetics Society of Australasia (HGSA)
- A/Prof Michelle Farrar, School of Women’s and Children’s Health, University of New South Wales; Paediatric Neurologist, Sydney Children’s Hospital Randwick
- Louise Healy, Education and Advocacy Manager, RVA
- A/Prof Sebastian Lunke, Clinical Scientist, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute
- Nicole Millis, CEO, RVA
- Prof Ainsley Newson, Professor of Bioethics, University of Sydney
- Dr Dianne Webster, Vice President, International Society for Neonatal Screening
This forum is ideal for:
- People living with a rare disease who are interested in better understanding NBS and the current policy frameworks
- Rare disease group leaders whose community has an interest in NBS
- Clinicians, researchers, industry and government representatives looking for multi-stakeholder perspectives regarding NBS
People living with a rare disease face unique challenges. The complexity and unmet need can be overwhelming for people living with a rare disease, policymakers, clinicians, researchers and industry. Due to limited data and high levels of uncertainty, people are often faced with difficult decisions, incomplete knowledge and unclear pathways.
After completing this course, you will better understand Australia’s rare disease landscape and policy environment.
This course is ideal for:
- People living with a rare disease who are interested in understanding the current policy frameworks that impact Australians living with a rare disease
- Anyone with an interest in the Australian rare disease landscape and policy
- Those wanting to participate in consumer consultation or co-design across a range of rare disease awareness and education projects
Module 1: Introduction to the rare disease sector
Module 2: Overview of Rare Voices Australia
Module 3: The National Strategic Action Plan for Rare Diseases
Module 4: Rare diseases and the Australian healthcare system
Course content is self-paced, so complete the modules in your own time.
You will need to complete Module 1 before moving on to Module 2. After making your way through the content, you’ll be asked to test your knowledge in a short quiz. Once you have successfully completed each quiz, you will receive a certificate that acknowledges your completion of this course.