Category: News

In May 2024, the Hon Mark Butler MP, Minister for Health and Aged Care, announced the Australian Government’s commitment to developing a National Health and Medical Research Strategy (the Strategy). Read the media release. The aim of the Strategy is to help target funding and strengthen Australia’s world-leading health and medical research capabilities into the future to further improve the health and lives of Australians.

Recently, the Department of Health and Aged Care launched an Australian Health and Medical Research Workforce Survey (the Survey), which is part of extensive consultations that will contribute supporting evidence to the development of the Strategy and future policies.  The aim of the Survey is to understand the demographic features, work environment, challenges, and motivations of health and medical researchers across Australia, including those in research support roles.

One of the three foundation principles in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) highlights the need for sustainable systems and workforce, which will also assist with implementation across all three key Action Plan Pillars (Awareness and Education; Care and Support; and Research and Data). More specifically, the following Priorities in the Action Plan emphasise the importance of embedding research into clinical care for people living with a rare disease.

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

Priority 3.4: ‘Translate research and innovation into clinical care; clinical care informs research and innovation’

Why is this important for Australians living with a rare disease?

The importance of the health and medical research workforce for people living with a rare disease and their families cannot be overstated. This workforce is vital to advancing understanding of the mechanisms of rare diseases, identifying and implementing new and novel health technologies, and developing best practice care and support.

Driven by the inherent lack of knowledge, treatments, and evidence-based care and support in rare disease, the overwhelming majority of rare disease stakeholders, including people living with a rare disease and rare disease representatives, have experience advocating for, and participating in, research.

Rare Voices Australia encourages individual rare disease stakeholders who have had either direct or supportive roles in research, including those in the not-for-profit space, to take part in this Survey. The Survey is open until 9 August 2024 and should take no longer than 10 to 15 minutes to complete.

Participate in the Survey

Access the Survey.

June has been a busy month for Rare Voices Australia (RVA) in the disability space with engagement with government on several of the key disability reform initiatives currently underway. As noted in RVA’s March Disability Advocacy Update, a comprehensive disability reform agenda is underway across Commonwealth and State Governments.

RVA is particularly pleased that we have been invited to present at some key forums on behalf of Australians living with a rare disease. Thanks to Louise Healy, RVA’s Education and Advocacy Manager, and Fiona Lawton, RVA’s Disability Advocacy Manager, for representing RVA and the estimated two million Australians living with a rare disease.

National Disability Insurance Scheme Taskforce – Provider and Worker Registration

On 7 May, RVA lodged a submission with the National Disability Insurance Scheme (NDIS) Provider and Worker Registration Taskforce (Taskforce). This submission was directly informed by 15 RVA Partner groups/organisations that participated in our virtual roundtable engagement session in April 2024. Read the submission.

On 20 June, RVA was invited to a private session with Taskforce member, the Hon Vicki O’Halloran AO CVO, former Administrator of the Northern Territory and former President of National Disability Services Australia. This was an excellent opportunity to further explore RVA’s position regarding mandatory registration and the need to build workforce capability to meet the needs of people living with a rare disease and disability impacts.

Joint Standing Committee on the National Disability Insurance Scheme – Participant Experience in Rural, Regional and Remote Australia

On 28 June, RVA was invited to a public hearing to present to the Joint Standing Committee on the NDIS (the Committee) regarding their Inquiry into the participant experience of people living in rural, regional and remote areas. This invitation was based on the strength of RVA’s submission to the Committee in February 2024. We thank the RVA Partner groups/organisations that contributed examples of their lived experience for the submission. Read the submission.

Louise and Fiona braved the Canberra winter to attend in person and represent the rare disease sector, highlighting:

• The need for person-centred, place-based delivery of disability services
• Opportunities of alternative commissioning
• The need for a re-design of the service delivery model and increased workforce capacity and capability to meet the needs of Australians living with rare disease

RVA is committed to ensuring the conversation moves from equity of access to disability services, to one that considers equity of outcomes in terms of quality of life for Australians living with a rare disease and their families/carers.

RVA is grateful for these opportunities and continues to actively seek representation on key co-design panels and forums.

Draft Legislation – National Disability Insurance Scheme Amendment Bill 2024

On 27 March 2024, the Hon Bill Shorten MP, Minister for the NDIS, tabled draft legislation, the NDIS Amendment (Getting the NDIS Back on Track No. 1) Bill 2024 (the Bill) to amend the NDIS Act 2013 to ensure sustainability and to reflect some recommendations from the NDIS Independent Review. The Bill was referred to the Community Affairs Legislation Committee for inquiry. On 17 May, RVA provided a submission to the Committee and noted that some of our proposed amendments were made to the draft Bill. However, RVA remains concerned that key elements of the Bill need further amendment to ensure it is fit-for-purpose for all current and future NDIS participants, particularly people living with complex rare disease and disability impacts.

The Committee have tabled their report this month with recommendations to pass the (slightly) amended draft Bill. The Bill was passed by the House of Representatives on 5 June after a range of new parliamentary amendments were proposed by the government and is currently before the Senate.

Fiona continues to closely monitor the passage of this legislation and RVA will provide additional submissions to inquiries as required.

The National Health and Medical Research Council (NHMRC) is currently reviewing the Statement on Consumer and Community Involvement in Health and Medical Research 2016 (Consumer Statement). The aim of the Consumer Statement is to guide research institutions, researchers, consumers and community members regarding the active involvement of consumers and community members in all aspects of health and medical research. The Consumer Statement outlines the benefits and levels of consumer and community involvement in research. Consumers and community representatives, researchers and research administrators, peak bodies, advocates, funders and government have been invited to contribute at all stages of the review.

On 24 April 2024, as the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) attended one of a series of workshops, led by the Australian Health Research Alliance (AHRA), to address specific discussion questions around content for the revised Consumer Statement.

All stakeholders—both individuals and organisations—were invited to contribute written feedback to address these discussion questions via an online survey. RVA contributed written feedback to this consultation informed by the Australian Government’s National Strategic Action Plan for Rare Diseases and learnings from RVA’s Research Partnerships program. This survey has now closed.

In brief, RVA’s written contribution to this consultation spoke to the ethical imperative of involving consumers and community in all types of research. We also made strong recommendations to include accountability, transparency, equity, diversity, respect, as well as recognition for the autonomy of roles in research partnerships as overarching values in the Consumer Statement. RVA’s submission mentioned the need to include the role of consumers and community in reporting to research funders and research institutions, and the importance of inviting consumers and community into the reporting process.

RVA’s full submission will be publicly available in time.

RVA looks forward to the outcome of this revision and anticipates more practical guidance that makes all stakeholders accountable for effective consumer and community involvement in health and medical research.

To better understand Australian newborn bloodspot screening (NBS) programs, the Department of Health and Aged Care commissioned a readiness assessment led by an external consultant. As published in the Newborn bloodspot screening expansion – Readiness assessment executive summary (the executive summary), “The aim of the readiness assessment was to understand how NBS programs operate nationally and the factors critical to achieving national consistency and expanding the number of conditions screened whilst maintaining quality and safety… The readiness assessment also sought to gain a detailed understanding of the process and/or implementation steps in each state or territory for adding new conditions.”

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) welcomes the release of the executive summary. Alongside other stakeholders in the rare disease sector, including many of our RVA Partner groups/organisations, RVA has been advocating for increased sustainability, equity, transparency and consistency of screening for NBS for several years. We have also acknowledged the complexity and need for careful consideration of NBS program expansion to ensure the best outcomes for Australians living with a rare disease.

In May 2024, RVA welcomed the Australian Government’s investment of $25 million to support the continued delivery of NBS expansion and consistency of conditions. As outlined in the Australian Government’s National Strategic Action Plan for Rare Diseases, early diagnosis is critical in rare disease for better outcomes as it enables the best immediate treatment and care. 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 the country, cementing Australia as a world leader in NBS.

RVA is pleased to see that the executive summary states that “NBS programs can achieve consistency in conditions screened within current resources.” It goes on to state:

“Readiness to expand NBS programs is inherently more complex than readiness to achieve consistency across each NBS program. The support required to achieve and maintain readiness for expansion varies between jurisdictions and also differs between condition types, acknowledging that some condition types (e.g. haemoglobin disorders) will be entirely new to the Australian screening landscape.”

The executive summary also highlights three domains requiring the most support to achieve expansion:

• Laboratory capacity and capability
• Clinical capacity
• Data and information systems

Read the executive summary in full on the newborn bloodspot screening page on the Department of Health and Aged Care’s website.

RVA will continue working with all Australian governments to assist with NBS expansion as the national peak body for Australians living with a rare disease.

As noted in Rare Voices Australia’s (RVA) March 2024 Disability Advocacy Update, a comprehensive disability reform agenda is underway across Commonwealth and State Governments. As the national peak body for Australians living with a rare disease, RVA continues to advocate for the best outcomes for the estimated two million Australians living with a rare disease, including those impacted by a disability.

May 2024 Disability Advocacy Summary

• Lodged a Submission with the National Disability Insurance Scheme (NDIS) Provider and Worker Registration Taskforce.

• RVA was advised by the Australian Government Department of Social Services that we were unsuccessful in our application for a grant as a Disability Representative Organisation (2024-2026). While this outcome was disappointing, RVA was pleased to see that for the first time, the government is funding a dedicated Disability Representative Organisation for people with intellectual disability and chromosomal variations. The consortium, led by Down Syndrome Australia, includes the following rare disease organisations and several RVA Partners:

• Angelman Syndrome Association Australia
• Australian X and Y Spectrum Support
• Cri-du-Chat Support Group
• Fragile X Association of Australia
• Prader-Willi Syndrome Australia
• Smith-Magenis Syndrome Australia
• Turner Syndrome Association of Australia

Congratulations to those involved in the consortium, including RVA Partners, Angelman Syndrome Association Australia and Fragile X Association of Australia!

• Lodged a Submission with the Community Affairs Legislation Committee Inquiry on the NDIS Amendment – (Getting the NDIS Back on Track No. 1) Bill 2024. Thank you again to the RVA Partners that participated in our Virtual Roundtable in April and contributed their knowledge and insights to RVA’s Submission.

• Attended the inaugural NDIS Neurological, Palliative Care and Rare Disease Working Group, which will meet bi-monthly to explore current issues and future policy reform.

• Attended an NDIS reform morning tea update in Brisbane with the Hon Bill Shorten MP, Minister for the NDIS.

• RVA has received an invitation from the Joint Standing Committee on the NDIS (the Committee) Inquiry into the NDIS participant experience in rural, regional and remote Australia to appear in person before the Committee in Canberra on 28 June 2024 based on the Submission RVA lodged in February 2024.

• Continued engaging in an ongoing monthly stakeholder engagement meeting with the NDIS Stakeholder Engagement Team. RVA is pleased to be receiving more invitations and opportunities to engage as the national peak body for Australians living with a rare disease, including those impacted by a disability. We will continue working hard to formalise these arrangements to ensure RVA remains actively involved in all relevant areas of disability policy reform.

• Met with Minister Shorten’s office to discuss the importance of rare disease expertise informing co-design of the proposed reforms and to discuss steps for the collection, collation and analysis of NDIS rare disease participant data.

The Joint Standing Committee on the National Disability Insurance Scheme (NDIS) has initiated a new inquiry into the NDIS participant experience in rural, regional and remote Australia. Read the terms of reference for the inquiry on the Joint Standing Committee on the NDIS’ website.

People living in regional, rural and remote areas are identified as a priority population in the Australian Government’s National Strategic Action Plan for Rare Diseases.

Submissions

The Joint Standing Committee on the NDIS is inviting those interested to lodge a written submission to the inquiry by 23 February 2024. You can learn more about making a submission on the Joint Standing Committee on the NDIS’ website.

Rare Voices Australia (RVA) will be lodging a Submission as the national peak body for Australians living with a rare disease. RVA Partner groups/organisations are welcome to send through input and examples from their community for RVA to consider including in our Submission. Please send all input to [email protected] by COB 16 February 2024.

As part of Medicine Australia’s five-year Strategic Agreement with the Federal Government, an independent review of Australia’s health technology assessment (HTA) system is being undertaken – the first of its kind in nearly 30 years.

HTA reform will ensure that Australia’s HTA system evolves to keep pace with advancements in medical technologies and delivers faster access to new medicines for patients.

Next steps

The HTA Policy and Methods Review Reference Committee has been considering stakeholder feedback collected through Consultation 1. This feedback, in addition to HTA expert papers, has been used to develop an Options Paper detailing options for reform. The Options Paper will be workshopped with stakeholders through a second round of public consultation (Consultation 2).

Consultation 2 opened for submissions on 22 January 2024 with online and in-person workshops planned to take place throughout February 2024.

As the national peak body for Australians living with a rare disease, Rare Voices Australia will continue participating in the consultation process throughout the Health Technology Assessment Policy and Methods Review.

The Options Paper for Consultation 2 is now available via the Office of Health Technology Assessment’s (OHTA) consultation hub.

In November 2023, Assistant Treasurer, the Hon Stephen Jones MP, announced a national consultation on the issue of genetic discrimination by life insurers (the Consultation). Genetic discrimination has been the subject of significate debate in recent years due to concerns that people may decline genetic testing for fear that it could impact their access to affordable life insurance. As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) welcomes the Consultation announcement.

Background

Announcement of this consultation is a response to the final stakeholder report from the 2023 Australian Genetics & Life Insurance Moratorium: Monitoring the Effectiveness & Response (A-GLIMMER) study, which aimed to monitor the impact and effectiveness of the Australian Genetic and Life Insurance Moratorium (the Moratorium) on the use of genetic test results in life insurance underwriting in Australia. Life insurance body, the Financial Services Council, introduced the Moratorium after a report by the Parliamentary Joint Committee on Corporations and Financial Services expressed concerns that the use of genetic tests in underwriting life insurance was discouraging participation in health research projects involving genetic testing. The aim of the Moratorium was to enable self-regulation and restrict life insurers‘ use of genetic test results up to certain policy limits.

In consultation with consumers, patients, health professionals and financial advisors, the A-GLIMMER research project identified that the Moratorium ‘continues to discourage consumers from participating in both established clinical genetic testing, which may identify a need for potentially life-saving treatment, and medical research involving genetic testing’. In their final report, the researchers conclude that the Moratorium is inadequate to address and prevent genetic discrimination in life insurance. 

As a partner organisation on the A-GLIMMER study, RVA contributed rare disease policy expertise, including feedback on survey design, dissemination of surveys and feedback on the final stakeholder report.

Download the final Stakeholder Report

Australian Government Consultation Paper

The Australian Government’s Consultation Paper on the use of genetic testing results in life insurance underwriting presents 3 options for regulatory intervention:

Option 1. No Government intervention.

Option 2. Legislating a ban.

Option 3. Legislating a financial limit.

Rare Voices Australia’s Position

RVA will submit a response to the Consultation advocating for Option 2, legislating a total ban to prohibit life insurers from requesting or utilising any adverse genetic testing results to inform their underwriting calculations. RVA’s position is informed by the foundation principles in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), ‘person-centred’ and ‘equity of access’. Our position also aligns with Action 2.4.1 in the Action Plan, ‘Develop policy that supports people living with a rare disease to have timely and equitable access to new and emerging health technologies’.

With at least 80% of rare diseases having genetic origins, the implications of genetic discrimination for people living with a rare disease and their families are far reaching. RVA encourages all relevant rare disease stakeholders to engage with this consultation and focus your responses on what is relevant from the perspectives of individuals, families and members of your communities. Without this change for strong protections, RVA is concerned that Australians living with a rare disease may continue to face genetic discrimination.

Submissions to the Consultation

Submissions to the Consultation are being accepted up until 31 January 2024. To read the Consultation Paper and for more information about the options for regulatory intervention as well as the submission guidelines, please visit the Australian Government’s The Treasury website.

If you would like to send an email to government regarding this consultation without writing your own submission, you may wish to send a message using this link.

On 6 December 2023, the Involve Australia project, coordinated by Australian Genomics, launched Guidelines for Community Involvement in Genomic Research (Guidelines). Involve Australia has engaged with the public to develop community involvement guidelines for genomic researchers.

The Guidelines were developed in partnership with patient support and advocacy groups, Indigenous community members, patients and carers, interested members of the public, genomic researchers and clinicians. RVA is also pleased to see Involve Australia’s plan for evaluating implementation of the Guidelines over the next couple of years.

Rare Voices Australia’s Contribution

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) provided detailed feedback into the draft Guidelines, including the need for a summarised version for quick reference by time poor researchers. The final version of the Guidelines has been formally endorsed through RVA’s Endorsement Criteria.

From RVA’s perspective, involving patients and communities in the development and execution of health and medical research:

• Increases the relevance of research in addressing community needs;
• Supports identification of real-world research priorities;
• Increases awareness, support and public confidence in research; and
• Improves translation of new knowledge into clinical practice.

How to Use the Guidelines for Community Involvement in Genomic Research

RVA encourages all genomic researchers to refer to the Guidelines to involve community members effectively and meaningfully in their research. Many of the Guiding Questions for Researchers in the supporting document for the Guidelines will also be useful to researchers in other fields.

The work of the Involve Australia project directly aligns with the following areas of the Australian Government’s National Strategic Action Plan for Rare Diseases:

• Critical enablers: The need for high-quality, comprehensive collection, and effective use, of rare disease data; and multi-stakeholder involvement and engagement
• Priority 3.3 under Pillar 3, Research and Data: Ensure research into rare diseases is collaborative and person-centred.

For more information and to download a copy of the Guidelines or the quick guide to involving community in research, please visit the Australian Genomics website.

Download the Guidelines

Download the Quick Guide

To assist with implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases, Rare Voices Australia (RVA) received $1 million over three years from 1 July 2021 to 30 June 2024 to lead the collaborative development of the Rare Awareness Rare Education (RARE) Portal and other education activities. In addition to facilitating the extensive multi-stakeholder consultation process to progress RARE Portal development, these funds have enabled RVA to consult with peak bodies and other experts to produce several education materials, including resource collections and webinars for the following priority populations identified in the Action Plan:

• The Aboriginal and Torres Strait Islander community
• The multicultural/culturally and linguistically diverse community
• The regional, remote and rural community

Resource collections and reports

Resource collections, reports and webinars for each priority population listed above can be downloaded from RVA’s Online Education Portal via the links below.

• RVA Education: Rare Disease Resources for the Aboriginal and Torres Strait Islander Community
• RVA Education: Rare Disease Resources for the Multicultural Community
• RVA Education: Rare Disease Resources for Regional, Rural and Remote Communities

Webinars

• RVA Education: Developing the Rare Disease Resources Collections for Priority Populations
• RVA Education: Developing the ‘Rare Disease Resources for the Aboriginal and Torres Strait Islander Community’ Collection
• RVA Education: Developing the ‘Rare Disease Resources for the Multicultural Community’ Collection
• RVA Education: Developing the ‘Rare Disease Resources for the Regional, Rural, and Remote Community’ Collection

These webinars are intended for peak bodies, organisations, and health care professionals who work with the above communities, RVA’s Partner groups/organisations, and rare disease groups/organisations that wish to engage with the priority populations listed above.

Please note: you will need to register on RVA’s Online Education Portal if you have not already done so to watch the webinars.

Acknowledgements

RVA thanks the National Aboriginal Community Controlled Health Organisation (NACCHO); the Australian Alliance for Indigenous Genomics; the Federation of Ethnic Communities’ Councils of Australia (FECCA); the Australian Multicultural Health Collaborative; and the National Rural Health Alliance for consulting with RVA to inform these education materials.