Victorian Budget 2022-23 Newborn Bloodspot Screening Update

Today’s Victorian 2022-23 Budget included funding to expand the state’s newborn screening program. 

In recognition of Rare Voices Australia’s (RVA) leading role in national newborn bloodspot screening advocacy, Martin Foley MP’s (Minister for Health) office reached out to provide RVA with more detail regarding this announcement. 

RVA has been advised that in total, $4.1 million over 4 years will be provided to add spinal muscular atrophy (SMA), severe combined immunodeficiency (SCID) and congenital adrenal hyperplasia (CAH) to Victoria’s newborn screening program. A lead-in time of up to 12 months will allow for the establishment of the required staffing and equipment, in accordance with the national recommendation endorsed by Australian Governments, to ensure the successful rollout of quality and safe screening. RVA anticipates that more information will be made available in the near future and will provide updates accordingly. 

Read Victoria’s 2022/23 State Budget Papers (see Budget Paper 3 for details related to newborn screening).

Ataxia-Telangiectasia Clinical Trial Launch

Rare Voices Australia (RVA) attended the launch of a world-first clinical trial for people living with Ataxia-Telangiectasia (A-T) at Wesley Medical Research in Brisbane with the Hon. Greg Hunt MP, Minister for Health and Aged Care; the clinical trial team led by Dr David Coman and Prof Martin Lavin;  RVA Partner BrAshA-T;  and children living with A-T and their families.

RVA is pleased to partner in this research as a member of the Trial Steering Committee. This trial is funded through the Medical Research Future Fund (MRFF). Previously, RVA’s advocacy influenced the creation of the MRFF Rare Cancers, Rare Diseases and Unmet Need Clinical Trials initiative.  

As there are currently no effective treatments to treat A-T, this trial is an important milestone for the A-T community. As highlighted in the National Strategic Action Plan for Rare Diseases, participation in a clinical trial is often the only way to access treatment for many people living with a rare disease.

What is A-T?

A-T is a rare genetic metabolic disorder with an incidence of 3 in 1 million births. A-T is a life-threatening disorder that causes cerebral palsy, muscular dystrophy, and immune deficiency leading to a cystic fibrosis-like lung disease and cancer. A-T progresses rapidly, robbing children of their ability to walk, speak and swallow—their minds remain unaffected. There are currently no effective therapies to treat A-T.

For more information about A-T, support or to learn more about this clinical trial, please visit BrAshA-T’s website.

Federal Budget 2022-23 and Australians living with a rare disease

On Tuesday, 29 March 2022, the Hon Josh Frydenberg MP (Treasurer of Australia) announced the Morrison Government’s 2022-23 Federal Budget, which included a record investment in Australia’s health system with a total commitment of $537 billion over the next four years.

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) attended the Department of Health’s Portfolio Briefing webinar presentation and Q&A with the Hon Greg Hunt MP (Minister for Health and Aged Care); the Hon Dr David Gillespie MP (Minister for Regional Health); the Hon David Coleman MP (Assistant Minister to the Prime Minister for Mental Health and Suicide Prevention); and Senator the Hon Richard Colbeck (Minister for Senior Australians and Aged Care Services). The session was facilitated by Dr Brendan Murphy, Secretary of the Department of Health.

RVA is currently reviewing the Budget in detail and what it may mean for Australians living with a rare disease. We will release a full statement shortly.

At an initial glance, key areas of the Federal Budget 2022-23 most relevant to the rare disease sector include:

  • Ensuring telehealth remains a permanent part of Australia’s health system
  • $4.6 billion over four years to drive improvements in health outcomes for Aboriginal and Torres Strait Islander people
  • $81.2 million to provide carrier screening for three rare genetic conditions (cystic fibrosis, spinal muscular atrophy (SMA) and fragile X syndrome), making Mackenzie’s Mission a permanent part of Australia’s health system
  • $2.6 billion for the Medical Research Future Fund (MRFF) and $3.7 billion for the National Health and Medical Research Council (NHMRC)
  • $28.1 million to commence work to establish Genomics Australia to support the implementation of genomics as a standard of healthcare in Australia
  • New listings on the Pharmaceutical Benefits Scheme (PBS) for the treatment of cystic fibrosis and SMA in children less than nine-months old with type 1 SMA or pre-symptomatic patients with 1-2 copies of the SMN2 gene
  • $648.6 million for Stage 2 of the Government’s Mental Health and Suicide Prevention Reform Plan

Launched: ‘Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia’

This Rare Disease Day (28 February 2022), Rare Voices Australia (RVA) launched the much-anticipated Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia (White Paper).

RVA hosted a webinar to launch the White Paper for those involved in the consultation process. Thank you to the following people who spoke at the webinar:

  • Dr Angela Jackson: White Paper author and economist;
  • Dr Kaustuv Bhattacharya: President, Australasian Society for Inborn Errors of Metabolism (ASIEM); and metabolic paediatrician, Genetic Metabolic Disorders Service (NSW);
  • Anita Inwood: Director, Queensland Lifespan Metabolic Service; and
  • Dr Falak Helwani: Co-author of the White Paper; and Research and Evaluation Officer, RVA.

Special thanks to the Project Steering Committee, RVA Partners, people living with a rare metabolic condition, the specialist metabolic workforce, industry and everyone else who contributed to this critical study.

White Paper downloads

Download the White Paper [PDF]

Download the White Paper Summary [PDF]

Next steps

Following the launch, RVA will:

  • Communicate these findings to all key stakeholders; 
  • Further develop draft strategic actions in response to the key findings;
  • Engage and collaborate with Commonwealth, state and territory governments, hospital administrators and ASIEM to review draft strategic actions and develop effective and sustainable solutions; and
  • Finalise strategic actions to progress much needed change in each jurisdiction that is aligned with international best practice.

White Paper background information

Australia’s first nationally coordinated effort to address rare diseases—the National Strategic Action Plan for Rare Diseases —called for the development of a national rare disease workforce strategy that responds to current and future demands, including the impact of genomics. ‘Sustainable systems and workforce’ is one of three foundation principles of the Action Plan. This White Paper is a pilot project focusing on the workforce challenges of the rare metabolic condition workforce and is an initial step to progress the development of a national rare disease workforce strategy. Many of the pilot’s findings will be transferable to other groups of rare diseases and will inform the development of a rare disease workforce strategy more broadly.

RVA, the national peak body for Australians living with a rare disease, engaged Equity Economics and Development Partners to undertake this comprehensive review and analysis of the Australian rare metabolic workforce.

Download the White Paper [PDF]

Download the White Paper Summary [PDF]

Global Roadmap for Sanfilippo Syndrome Therapies Launched

Rare Voices Australia (RVA) congratulates RVA Partner, Sanfilippo Children’s Foundation Australia, for their leading role in the development and delivery of a Global Roadmap for Sanfilippo Syndrome Therapies (Roadmap). This Roadmap was a joint effort with Cure Sanfilippo Foundation (USA) and other international sister foundations. It was developed collaboratively through the expertise of clinicians, researchers, industry leaders, family-led organisations and families from around the globe.

The Roadmap aims to drive research towards effective therapies and better outcomes for families affected by Sanfilippo syndrome. 

The Roadmap on a Page

The pillars of the Roadmap focus on how to STOP Sanfilippo at its root cause, how to TREAT the underlying impact of the disease on the brain and body, and how to better MANAGE symptoms and improve quality of life. The research themes are underpinned by a set of ENABLING INITIATIVES – data, research tools and collaborative platforms – that could support multiple aspects of research along the entire therapy development pipeline.

With the Roadmap in hand, Sanfilippo support organisations from around the world will be coming together to focus attention on their shared priorities.

The Roadmap aligns with the following sections of the National Strategic Action Plan for Rare Diseases (the Action Plan):

  • Critical enabler: State, national and international partnerships. 
  • All four priorities under Pillar 3: Research and Data, of the Action Plan, and in particular Action 3.2.3: Support collaborative research into rare diseases in Australia and internationally.

To read the Roadmap and associated materials please follow the links below:

Global Roadmap for Sanfilippo Syndrome Therapies [PDF]

Global Roadmap for Sanfilippo Syndrome Therapies: Executive Summary [PDF]

The Roadmap on a Page [PDF]

Expressions of Interest Sought: Rare Awareness, Education, Support and Training Stakeholder Reference Group

  • Do you have lived experience of rare disease?
  • Are you actively connected with a rare disease community?
  • Would you like to contribute to an innovative rare disease awareness, education, support and training program designed to improve outcomes for all Australians living with a rare disease?

We are looking for people to join the Rare Awareness, Education, Support and Training (RArEST) Stakeholder Reference Group. The RArEST project is being led by the University of New South Wales (UNSW) in collaboration with Rare Voices Australia (RVA) and the University of Western Australia and Macquarie University.

Role description

The RArEST project is a federal government funded initiative that aims to increase awareness, education, support and training for rare diseases among health professionals and within the rare disease community. The RArEST project will progress implementation of the National Strategic Action Plan for Rare Diseases (the Action Plan). Read more about the RArEST project here.

We are inviting people to lodge an expression of interest (EOI) to join the Stakeholder Reference Group, which will help us to design what the project will deliver (e.g. guiding what rare disease awareness, education, training and support resources are developed and how they are delivered).

By bringing together this group, we hope to increase the relevance and impact of the RArEST project. Members will be supported to take part in the group and will be offered reimbursement for their time and expertise. It will be a prerequisite to complete introductory training.

We wish to hear from people who:

  • Have lived experience — personal experience of living with a rare disease or caring for someone with a rare disease.
  • Are able to influence and communicate across a broad network of individuals or organisations in the rare disease sector.
  • Can demonstrate their commitment to ensuring their input into consultative processes is representative of their community/ies and reflects community engagement.
  • Preference will be given to those who represent one of the priority populations identified in the Action Plan, which include people living with a rare disease, Aboriginal and Torres Strait Islander people, people experiencing socioeconomic hardship, people from culturally and linguistically diverse (CALD) backgrounds, people living in regional, rural or remote communities and people who are suspected of having an undiagnosed rare disease.

Those who feel they can contribute effectively are encouraged to submit an EOI to participate in the Stakeholder Reference Group, which will see them consulting and collaborating with the RArEST team. This team will include RVA representatives, rare disease clinicians and researchers and other members of the rare disease community. Selection will be based on building a diverse Stakeholder Reference Group with broadest possible representation from the rare disease community. Experience as a consumer representative is not necessary as training and support will be provided.

Participants will be asked to:

  • Share their own experiences and the experiences of the broader community they represent.
  • Provide feedback on the relevance, understanding and value of proposed projects.
  • Participate in discussions.
  • Take a person-centered approach to healthcare.
  • Act as a conduit between the RArEST project and consumers and/or community organisations to provide feedback from the Stakeholder Reference Group and seek input and advice to pass back to the group.
  • Prepare for meetings and read materials ahead of meetings.

Members of the Stakeholder Reference Group who are consumers living with a rare disease will receive an honorarium payment of $45.26 per hour for their time preparing for and attending meetings and undertaking pre-agreed training.

Translation and support services may be available. Requests are welcomed.

We are looking for people who have the capacity to dedicate approximately 40-60 hours to this project over the next 2.5 years. 

Questions regarding the Stakeholder Reference Group can be directed to education@rarevoices.org.au.

How to lodge an EOI

EOIs closed on Tuesday 25 January. RVA will be in touch with those who lodged an EOI shortly.

Update: United Nations General Assembly Resolution on Persons Living with a Rare Disease and their Families

Throughout 2021, the global rare disease community has been advocating for the United Nations General Assembly (UNGA) to adopt the Resolution on Addressing the Challenges of Persons Living with a Rare Disease and their Families (Resolution on PLWRD). This campaign has been led at a global level by the NGO Committee for Rare Diseases, Rare Diseases International (RDI) and EURORDIS – Rare Diseases Europe. Learn more and read about the significance of a UNGRA Resolution on PLWRD here.

On 10 December, RDI confirmed that on 16 December 2021, the UNGA will adopt the Resolution on PLWRD. This is a wonderful milestone for the global rare disease community!

Rare Voices Australia’s advocacy

In response to Rare Voices Australia’s (RVA) advocacy regarding the Resolution on PLWRD, we have received a letter sent on behalf of Australia’s Minister for Foreign Affairs, Senator Marise Payne, confirming that Australia plans to endorse this Resolution at the UNGA on 16 December. Click here to read the letter.

As communicated in recent RVA eNewsletters, in collaboration with RDI, RVA had reached out to Australia’s Permanent Mission to the United Nations and Senator Payne to request their support of the Resolution on PLWRD. We had also previously reached out to the Minister for Health’s office to flag the Resolution on PLWRD and request Australia’s support.

RVA thanks the Australian Government for its ongoing commitment to rare diseases in Australia and for its support of this important global initiative.

The Hon Greg Hunt MP Announces Retirement From Politics

The Hon Greg Hunt MP has announced that he will retire from politics at the next election after more than 20 years in Federal Parliament. Watch Minister Hunt’s speech to Parliament.

Rare Voices Australia (RVA) thanks Minister Hunt for his ongoing support of Australians living with a rare disease during his time as Minister for Health and Aged Care. Minister Hunt’s leadership led to the Australian Government investing in the collaborative development of the National Strategic Action Plan for Rare Diseases, which was launched in 2020, with bipartisan support. In his speech to Parliament today, Minister Hunt touched on his dedication to people living with a rare disease. We acknowledge the many rare disease initiatives that Minister Hunt has championed, including:

  • Research investment into genomics as well as rare diseases and rare cancers via the Medical Research Future Fund (MRFF)
  • Mackenzie’s Mission
  • Reform of the Life Saving Drugs Program (LSDP)
  • Overseeing the addition of many rare disease medicines to the Pharmaceutical Benefits Scheme (PBS)
  • Leadership on newborn bloodspot screening (NBS) reform, work which is ongoing
  • His systemic approach, which has seen rare disease expertise appointed to the National Health and Medical Research Council (NHMRC) for the first time and rare disease consumer expertise appointed to the LSDP Expert Panel
  • His referral to the Standing Committee on Health, Aged Care and Sport of the Parliamentary Inquiry into approval processes for new drugs and novel medical technologies in Australia
  • His support for the ongoing review of health technology policy in line with advancements in health technology, which has resulted in achievements such as the Mitochondrial Donation Law Reform (Maeve’s Law) Bill 2021 passing through the House of Representatives

We thank Minister Hunt for his efforts throughout his tenure and for his willingness to engage with RVA and work towards the best possible health and wellbeing outcomes for the estimated two million Australians living with a rare disease.

Final Report Tabled: Parliamentary Inquiry Into Approval Processes for New Drugs and Novel Medical Technologies in Australia

The Standing Committee on Health, Aged Care and Sport (the Standing Committee) tabled its report into the Parliamentary Inquiry into approval processes for new drugs and novel medical technologies in Australia (Parliamentary Inquiry) in Parliament today (25 November 2021). The report, The New Frontier – Delivering better health for all Australians, contains 31 recommendations, including separate sections dedicated to rare diseases and the patient voice. It also aligns with a number of the priorities, actions and implementation steps outlined in the National Strategic Action Plan for Rare Diseases. Access the report by clicking here.

Trent Zimmerman MP, Chair of the Standing Committee, and its Deputy Chair, Dr Mike Freelander MP, each spoke to the report for five minutes in Parliament after the report was tabled. Rare Voices Australia (RVA) thanks Mr Zimmerman and Dr Freelander for engaging with the rare disease sector throughout the process and for their ongoing commitment to Australians living with a rare disease. Additionally, we thank all members of the Standing Committee for their work on this report.

RVA’s Chief Executive Officer (CEO), Nicole Millis, was invited to a private briefing with Mr Zimmerman and Dr Freelander to discuss the report’s findings immediately after the report was tabled. The CEOs of Medicines Australia and the Medical Technology Association of Australia (MTAA) were also invited to the briefing.

Thank you to our RVA Partner organisations, as well as other key stakeholders in the rare disease sector, who lodged a Submission and participated in the Public Hearings earlier this year. As a sector, we have ensured that Australians living with a rare disease have remained central to this Parliamentary Inquiry.

RVA is in the process of taking a detailed look at the report and will provide a full statement with more information about the implications of the recommendations for Australians living with a rare disease shortly. Initially, we have identified a number of recommendations from the report that appear consistent with what RVA called for in our Submission and as opening witness at the Public Hearings.

The following recommendations are positive steps forward for people living with a rare disease and the entire rare disease sector:

Recommendation 1: Establish a Centre for Precision Medicine and Rare Diseases

11.1 — “The Committee recommends the Australian Government establish a Centre for Precision Medicine and Rare Diseases within the Department of Health.”

Note: Recommendation 1 contains more information. See the report for full details.

Recommendation 2: Establish a National Genomics Testing Program

11.2 — “The Committee recommends that, consistent with Recommendation 1 and the establishment of a Centre for Precision Medicine and Rare Diseases, the Health Technology Assessment (HTA) process for cell and gene therapies be simplified to establish a clear and certain pathway for such therapies.”

Note: Recommendation 2 contains more information. See the report for full details.

Recommendation 3: Establish an Office of Clinical Evaluation

11.3 — “The Committee recommends the Australian Government establish an Office of Clinical Evaluation within the Department of Health to assess the best and most effective care for patients in the context of new and emerging health technologies.”

Note: Recommendation 3 contains more information. See the report for full details.

Recommendation 4: Improving the Life Saving Drugs Program

11.4 — “The Committee recommends that the assessment process for the Life Saving Drugs Program (LSDP) be streamlined and delays in access to treatments be reduced by ensuring that a sponsor only need lodge one application for one Health Technology Assessment pathway.”

Note: Recommendation 4 contains more information. See the report for full details.

Recommendation 6: Improving Education and Engagement for the TGA and the HTA processes

11.6 — “The Committee recommends that the Department of Health increase its efforts to educate and engage with patients, clinicians, industry and the public and develop education campaigns on all aspects of the regulation and reimbursement system.”

Note: Recommendation 6 contains more information. See the report for full details.

Recommendation 8: Submission Fee Waivers

11.9 — “The Committee recommends that the Australian Government make the following changes to submission fees for the Therapeutic Goods Administration (TGA) and the Pharmaceutical Benefits Advisory Committee (PBAC) and where appropriate Medical Services Advisory Committee (MSAC) assessments in the following separate circumstances:

  • Replace the current orphan drug fee waivers with a HECS-style fee waiver, in which orphan drug application fees are payable on successful application, only once the drug has earned the sponsor a certain amount of revenue. The Department of Health should determine this threshold value in consultation with industry
  • To support smaller companies, HECS-style fee waivers for any sponsor company with revenue at or below $50 million per annum
  • HECS-style fee waivers for Australian start-up companies with a specified amount of revenue in the Australian market to promote innovation.

The Committee also recommends introducing a sliding scale for fees for resubmissions, with fees being lower for resubmissions.

Recommendation 9: Funding for Submissions without a Sponsor

11.10 — “The Committee recommends that the Australian Government establish a fund to support patients, clinicians and non-profit organisations to sponsor registration and reimbursement applications where there is no realistic prospect of a company serving as sponsor, and where the Department of Health is otherwise supportive of the application.

  • Such a fund should be targeted at treatments for conditions where low patient numbers in Australia serve as a market barrier and where there is a clinical demand and need. The fund should be available for applications to repurpose previously listed medicines and technologies.”

Note: Recommendation 9 contains more information. See the report for full details.

Recommendation 10: The PBAC and Managed Access Programs

11.11 — “The Committee recommends that the Australian Government amend the National Health Act 1953 (Cth) to give the Pharmaceutical Benefits Advisory Committee the power to authorise Managed Access Programs. The eligibility criteria for these Managed Accessed Programs should be aligned as far as possible with the eligibility criteria for the Therapeutic Goods Administration’s provisional registration.”

Recommendation 11: Review Repurposing of Drugs

11.12 — “The Committee recommends that the Department of Health conduct a comprehensive consultation process with industry to establish a more flexible way forward for the repurposing of drugs in Australia.”

Note: Recommendation 11 contains more information. See the report for full details.

Recommendation 12: TGA Reform

11.13 — “The Committee recommends that the Therapeutic Goods Administration make the following changes to its Orphan Drugs Program:

  • Provide automatic access to the Priority Review Pathway for all medicines granted an orphan drug designation
  • Treat paediatric patient populations as separate to adult patient populations for the purposes of the eligibility criteria
  • Better account for the extra costs incurred by a sponsor in expanding its medicine to paediatric indications, for the purposes of assessing commercial viability as part of the eligibility criteria
  • Where the prevalence of a disease is unknown in Australia, accept evidence of prevalence in other comparable countries or, in diseases of extremely low prevalence, worldwide for the purposes of the eligibility criteria.

Recommendation 13: Molecular Indications

11.14 — “The Committee recommends that the Department of Health reform its regulatory and reimbursement processes to enable therapeutic goods to be registered and reimbursed by molecular indication in addition to by disease indication. This should include legislative change if necessary.”

Recommendation 15: Membership of the PBAC and MSAC

11.16 — “The Committee recommends that the Australian Government ensure the membership of the Pharmaceutical Benefits Advisory Committee and Medical Services Advisory Committee provides the appropriate expertise for all applications. This should include the possibilities of enhanced cross membership between the two committees and the appointment of temporary members to consider individual applications.”

Note: Recommendation 15 contains more information. See the report for full details.

Recommendation 16: Increase International Collaboration

11.17 — “The Committee recommends that the Department of Health investigate further opportunities for the formation of an international Health Technology Assessment consortium…”

Note: Recommendation 16 contains more information. See the report for full details.

Recommendation 21: Improve Newborn Screening Program

11.22 — “The Committee recommends:

  • The federal, state and territory health authorities complete the standardisation of newborn screening across Australia
  • As part of that process, the Australian Government work with states and territories to expand the newborn screening program based on new understandings of genomic testing for conditions and international best practice
  • That the Australian Government in collaboration with states and territories, conduct reviews every two years to determine whether the screening program should be further expanded based on new Australian and international scientific and medical knowledge.

“While not in the terms of reference for this inquiry, the Committee recognises and supports the calls from rare disease patient groups for more funding for treatment pathways for actionable disorders across states and territories, where identified through newborn screening.”

Recommendation 22: Improve the Clinical Trial System in Australia

11.23 — “The Committee recommends that all levels of government prioritise and implement with urgency the harmonisation of Human Research Ethics Committee (HREC) and Site-Specific Assessment submissions into one Australian online platform and enable parallel review by HRECs and Research Governance Offices.”

Note: Recommendation 22 contains more information. See the report for full details.

Recommendation 23

11.24 — “The Committee recommends that all levels of government jointly provide funding for the development of a national clinical trial register. It should include:

  • Development of a sophisticated digital platform to collect and facilitate patient identification, patient recruitment, patient retention and completion rates for clinical trials.”

Note: Recommendation 23 contains more information. See the report for full details.

Recommendation 24

11.25 — “The Committee recommends the Australian Government develop policies that encourage modernising digital technologies and practices to position Australia as the premier destination for international clinical trials. This would include developing national standards for the use of e-consent, esignature, and electronic medical records to enable remote monitoring and participation in clinical trials across Australia.

  • National standards should include standardising clinical costs and fees that are competitive with international fees.”

Recommendation 25

11.26 — “The Committee recommends the Australian Government should develop a national standard approach, including nationally agreed systems and standard operating procedures to support and strengthen the capacity to conduct clinical tele-trials in rural, regional and remote areas.”

Note: Recommendation 25 contains more information. See the report for full details.

Recommendation 26

11.27 — “The Committee recommends the Australian Government should continue to fund Clinical Trial Networks with a particular focus on developing seed funding for Indigenous Health Clinical Trial Networks.”

Recommendation 27: Research and Development

11.28 — “… The Australian Government should:

  • Develop additional reforms to data exclusivity timeframes to support research and development into new drugs and novel medical technologies in areas of unmet need. 
  • Consider future funding initiatives for novel drug discovery and support research and development partnerships in Australia. This would assist new drugs and novel medical technologies in early stage and pre-commercial development.

Note: Recommendation 27 contains more information. See the report for full details.

Recommendation 28: The Patient Voice

11.29 — “The Committee recommends that:

  • The Department of Health integrate the patient voice upfront into the Health Technology Assessment system. Earlier patient engagement with the Health Technology Assessment system would include:

– Representation from peak patient bodies that is refreshed every three – five years

– Representation of Aboriginal and Torres Strait Islander Peoples.

  • The Department of Health implement a notification system for all HTA bodies and the TGA to advise relevant patient groups of the receipt of an application.
  • The Department of Health provide patients and stakeholders with a concise sponsor’s submission summary to help facilitate their own involvement in the Health Technology Assessment process.
  • The Department of Health should consider making patient evidence compulsory for certain applications, and should consider the role of patient evidence in the decisions of the Therapeutic Goods Administration.
  • The Department of Health should notify relevant patient groups of the outcome of the assessment process by all HTA bodies.
  • The Department of Health be funded to implement these recommendations.
  • The Australian Government provide funding for organisations to support participation in the HTA process, including for very rare disease patient groups that have limited capacity for fundraising or access to alternative funding.”

Recommendation 29: Improving the HTA process

11.30 — “The Committee recommends that:

  • The Department of Health produce a pre-submission advice framework for submissions to the Therapeutic Goods Administration, Pharmaceutical Benefits Advisory Committee, Medical Services Advisory Committee and other Health Technology Assessment bodies, explaining the interaction between those bodies and their evidentiary and other requirements, to be provided to sponsors before they make their submissions.
  • The independent Health Technology Assessment Review reassess relevant aspects of the Health Technology Assessment process to ensure there are future pathways for treatments and therapies that do not fit neatly into the current system such as rare cancers, antimicrobials, orphan drugs, and precision medicines

– The Committee is of the clear view that precision medicine approval pathways will require a different application assessment than current approaches designed for treatments for common conditions, with large data sets and comparative evaluations.

  • The Department of Health publish data on application processing times and positive recommendation rates for the Pharmaceutical Benefits Advisory Committee and other Health Technology Assessment bodies.”

Note: Recommendation 29 contains more information. See the report for full details.

Recommendation 30: Review of HTA

11.31 — “The Committee recommends that the Australian Government’s independent Health Technology Assessment Review (which is scheduled to commerce in July 2022) consider and develop reforms in the following areas:

  • Reducing the frequency and need for applications to HTA bodies to be resubmitted
  • Streamlining the interaction between hospitals and the Health Technology Assessment system
  • Streamlining the interaction of the Therapeutic Goods Administration, the Pharmaceutical Benefits Advisory Committee, the Medical Services Advisory Committee and other Health Technology Assessment bodies
  • Improving the measurement of the performance of the Pharmaceutical Benefits Advisory Committee and the publication of data on that performance
  • Improving the mechanisms for communication between sponsors and the Pharmaceutical Benefits Advisory Committee during the submission process
  • Increasing the use of Managed Access Programs to facilitate earlier access to innovative medicines
  • Increasing the use of Real World Evidence in Health Technology Assessment
  • Introducing a scoping process that includes patients and clinicians at an early stage to agree on the framework that the submission will be considered. This process could draw on the approach taken by the United Kingdom’s National Institute for Health and Care Excellence
  • Improving the independent review process for HTA decisions, including the potential for this to be made available to groups of patients and clinicians in addition to sponsors”

Note: Recommendation 30 contains more information. See the report for full details.

Recommendation 31: MSAC

11.32 — “The Committee recommends that:

  • The Medical Services Advisory Committee increase the involvement of clinicians in its assessments of technologies with which its members lack relevant expertise.
  • The Therapeutic Goods Administration introduce parallel processing of applications with the Medical Services Advisory Committee.
  • The Medical Services Advisory Committee increase opportunities for sponsors of particularly complex applications to present to it at its meetings and expand the opportunities for pre-submission meetings
  • The Department of Health expand the independent Health Technology Assessment Review in July 2022 to include Medical Service Advisory Committee processes
  • The Medical Services Advisory Committee publish a full calendar timeline of meeting agenda and outcomes, including dates when minutes and Public Summary Documents will be made public
  • The Department of Health establish a benchmarking system for MSAC assessments, including benchmarking against comparable overseas organisations.

Note: Recommendation 31 contains more information. See the report for full details.

Survey Opportunity: Audit of Australian Rare Disease Registries

Rare Voices Australia (RVA) has engaged Monash University clinical registry experts, Professor Susannah Ahern and Dr Rasa Ruseckaite, to undertake an audit of Australian rare disease registries, and databases available to Australian participants.

The National Strategic Action Plan for Rare Diseases (the Action Plan) identifies the key role that registries play in its Research and Data Pillar. The Action Plan was informed by an extensive multi-stakeholder consultation process. Click here to learn more about the rationale behind this work.

RVA has invited RVA Partners, known rare disease registry managers and RVA’s Round Table of Companies to take part in a short survey as part of this work. However, this survey is open to everyone who manages or has managed a rare disease registry that collects Australian data. If this applies to you, we would be grateful for your input.

To complete this survey, you will need the following information:

  • The type of registry – clinician led/patient led/other
  • The data your registry collects and from what jurisdictions or sites
  • Who is responsible for maintaining and populating the registry
  • How it is funded
  • If your registry has ethics approval
  • Registry governance
  • Outcomes, barriers and enablers of the registry

With this information handy, it should take approximately 10 to 15 minutes to complete all the survey questions. If you wish to take part, please click on the link below. 

https://monash.az1.qualtrics.com/jfe/form/SV_d5SBlmp3Dp1MatU

If you have trouble accessing this link, please copy and paste it into your usual web browser.

Thank you for taking part. The results will be available in the first half of 2022.