Category: News

Today (28 June) is International Neonatal Screening Day, a day that celebrates the birthday of Dr Robert Guthrie, the American microbiologist who introduced the first dried bloodspot testing for rare disease. Australian babies have been screened using Dr Guthrie’s method since the 1960s. 

Newborn Bloodspot Screening (NBS) is an important program that supports the earliest possible diagnosis of some rare diseases. As outlined in the National Strategic Action Plan for Rare Diseases, early diagnosis is critical for better outcomes as it enables the best immediate treatment and care. 

In a Media Statement released by the Hon Mark Butler MP, Minister for Health and Aged Care, to coincide with International Neonatal Screening Day, the Government stated: 

“In a major milestone, Severe Combined Immunodeficiency (SCID) has been recommended for inclusion in state and territory newborn bloodspot screening programs. SCID is a serious, life-limiting condition and early diagnosis by newborn screening allows for treatment to be undertaken before infections cause complications.” 

RVA welcomes this positive recommendation and the announcement from the New South Wales Government (NSW) that all NSW and Australian Capital Territory (ACT) babies will be offered testing for Spinal Muscular Atrophy (SMA) and SCID, thanks to a $1.3 million investment boost per year. These tests will be offered to parents of all new babies in NSW and the ACT from 1 July 2022 within 48-72 hours of their baby’s birth. Read the full Media Statement.

On 17 June 2022, RVA welcomed the Queensland Government’s announcement that the state will expand its newborn screening program to include SMA and SCID. See RVA’s full article. 

RVA thanks both state governments for their ongoing engagement with RVA regarding NBS. We will continue to work with the Commonwealth and state governments with a focus on achieving a nationally equitable, consistent and sustainable NBS Program. 

Congratulations to RVA Partners, Spinal Muscular Atrophy Australia and Immune Deficiencies Foundation Australia, on their successful advocacy on behalf of their communities. 

These state government announcements follow the Australian Labor Party’s (ALP) $38.4 million commitment to NBS ahead of the Federal Election. RVA is encouraged by the discussions we’ve had with the ALP since they formed government regarding this investment, and the challenges and gaps with NBS. The Government’s International Neonatal Screening Day message also stated: 

“Over the coming months, newborn bloodspot screening programs will be reviewed and reformed. The Department of Health and Aged Care has already started this work in collaboration with key partners. The Department will be consulting widely and working closely with state and territory governments to ensure program expansion is implemented effectively. More details on this consultation process will be available soon.”  

Read the full Media Statement

Rare Voices Australia (RVA) welcomes the Queensland Government’s announcement that the state will expand its newborn screening program to include Spinal Muscular Atrophy (SMA) and Severe Combined Immunodeficiency (SCID). 

The Hon Yvette D’Ath MP, Queensland’s Minister for Health and Ambulance Services, said the new testing capabilities would begin operation in May 2023 and be available for use on all heel prick samples soon after. In her Media Statement, the Minister added: 

“… The Queensland Government is investing $1.6 million to expand the screening program and a further $1.25 million each year to maintain it. 

“This funding will be used to purchase new genetic testing equipment, upskill pathology staff and test tens of thousands of Queensland babies born each year for SMA and SCID.” 

Read the full Media Statement. 

This announcement follows the Australian Labor Party’s (ALP) $38.4 million commitment to newborn bloodspot screening (NBS) ahead of the Federal Election. RVA is encouraged by the discussions we’ve had with the ALP since they formed government regarding this investment, and the challenges and gaps with NBS. 

RVA thanks the Queensland Government for their ongoing engagement with RVA regarding this issue. NBS is an important program that supports the earliest possible diagnosis of these rare diseases. As outlined in the National Strategic Action Plan for Rare Diseases, early diagnosis is critical for better outcomes as it enables the best immediate treatment and care.    

Congratulations to RVA Partners, Spinal Muscular Atrophy Australia and Immune Deficiencies Foundation Australia, on their successful advocacy on behalf of their communities. 

RVA will continue to work with the Commonwealth and state governments with a focus on achieving a nationally equitable, consistent and sustainable NBS Program.   

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).

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.

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

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]

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 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]

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 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.