Author: Sarah Cannata

Rare Voices Australia (RVA) is progressing work on The Navigator Project, which was named the recipient of the Rare and Complex Disease Telehealth Nurse Program grant. Read the Australian Government’s media release. The Navigator Project will support the estimated two million Australians living with a rare disease to navigate the health system, including via the assistance of telehealth nurses. You can read more about The Navigator Project’s three core components via this article on RVA’s website.

Expressions of Interest Open

RVA is seeking expressions of interest (EOI) from experienced consumer-led rare and complex disease organisations already providing disease-specific telehealth service navigation to implement the third component of The Navigator Project. Upon the completion of the EOI process, three organisations will be selected to work with RVA to provide specific services. Selection will be based on an open competitive process, and RVA will accept submissions until 5pm (AEST time), 29 September 2023.

Download the selection criteria and EOI details (PDF).

Download the template for the EOI Application Form (Word).

Funding amount: $20,000 (+GST) per grant year for three years, totalling a maximum amount of $60,000 (+GST)

Important: for organisations interested in lodging an EOI, please note that the funding provided for this component of The Navigator Project is not for service provision. Before lodging an EOI, please read the selection criteria carefully to ensure your organisation is a suitable candidate.

Purpose: Engagement with Three Consumer-Led Rare and Complex Disease Organisations

The purpose of this component of The Navigator Project is to establish the benefits of an existing patient navigation model and contribute to the project’s overall data collection and reporting. This will involve information sharing to support continuous improvement of telehealth nurse-led services for people/families living with a rare and complex disease, while also providing an evidence base for alternate patient navigation models for rare and complex diseases.

How the Successful Organisations Will Benefit from Participating

The three successful organisations will benefit from participation in The Navigator Project through representation on the Expert Advisory Group and as such, will support a community of best practice telehealth care and navigation. Additional benefits are outlined in the selection criteria and EOI details.

Lodging An Expression of Interest

Download the selection criteria and EOI details (PDF).

Download the template for the EOI Application Form (Word).

Submission time and date: 5pm (AEST), 29 September 2023

If you have any queries about the EOI process, please email [email protected] with the subject line, “EOI Query – The Navigator Project”.

Please direct all other queries regarding The Navigator Project to: [email protected].

Combined, the National Health and Medical Research Council’s Medical Research Endowment Fund (MREA) and the Medical Research Future Fund (MRFF) award approximately $1.5 billion in health and medical research grants every year. The National Health and Medical Research Council (NHMRC) typically funds investigator-led (that is, led by a researcher or researchers) grants focused on fundamental discovery research looking at the underlying biology of disease, clinical care as well as public health and health systems research. In 2015, the Australian Government launched the MRFF to fill a noticeable gap in priority-driven translational research. Due to the high levels of unmet need and limited knowledge in rare diseases, the MRFF’s approach to funding has been transformative for rare disease research.

The Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) and Rare Voices Australia’s (RVA) strong relationships with policymakers and health departments have enabled greater investment in rare disease research, particularly through the MRFF. As the national peak body for Australians living with a rare disease, RVA’s advocacy was critical in highlighting the need for a greater rare disease research focus in Australia, which led to the MRFF’s investment in the Rare Cancers, Rare Diseases and Unmet Need competitive grant program. The Action Plan —developed by the rare disease sector, for the rare disease sector—further highlights the need for more coordinated investment into rare disease research.

Improving Alignment and Coordination between the National Health and Medical Research Council’s Medical Research Endowment Account and the Medical Research Future Fund

On 19 June 2023, together with clinicians, researchers and leaders from a range of research institutions and universities across Queensland and New South Wales, RVA was invited to a roundtable discussion to contribute rare disease expertise to discussions around the future governance and administration of the MREA and the MRFF. RVA used this opportunity to highlight the critical importance of embedding research into clinical care for people living with a rare disease, and the need for research that builds evidence for policy-driven equitable access to innovative healthcare. RVA also called attention to the need to include all stakeholders (including consumers and peak bodies, policymakers, federal, state and territory hospitals and health administrators, early, mid and late career researchers, clinicians, and clinician-researchers) in any new governance advisory structure for the delivery of health and medical research funds in Australia.

Rare Voices Australia Submission

RVA provided a written submission to this consultation addressing the current strengths and weaknesses of the MREA and the MRFF for rare disease, and the newly proposed governance and administration models. RVA’s detailed position on this consultation, which informed our submission, is linked below, together with condensed responses to the Guiding Questions of the consultation. Please read the Health Minister’s Discussion Paper for more information about the models that were proposed to support discussions for this consultation.

Download RVA’s detailed position (PDF)

Download RVA’s submitted responses to the Guiding Questions (PDF)

One of Rare Voices Australia’s (RVA) formal research partnerships was chosen for funding under the Medical Research Future Fund (MRFF) Preventive and Public Health Research Initiative 2022 Assessment of High-Cost Gene Treatments and Digital Health Interventions Grant Opportunity. RVA congratulates lead researcher Professor Kirsten Howard, from the University of Sydney, and the incredible team of researchers and other partners on this successful outcome.

This program of work is entitled, Development of a generalisable evaluation framework for high upfront-cost gene therapies: clinical, financial, ethico-legal and cultural considerations. It will address key challenges associated with the assessment of gene therapies for reimbursement, directly informed by stakeholder preferences and ethical and equity considerations. This work directly responds to the following actions under the Care and Support Pillar of the Australian Government’s National Strategic Action Plan for Rare Diseases:

Action 2.4.1

Develop policy that supports people living with a rare disease to have timely and equitable access to new and emerging health technologies.

Action 2.4.3

Ensure people living with a rare disease have equitable access to medicines with demonstrated clinical benefit for a rare disease, including those that are already funded for another condition.

RVA provided a Letter of Support to this grant and has committed to the following roles in this research program:

• Provision of rare disease consumer and policy expertise on the project advisory board
• Support to disseminate results from this research to the rare disease community
• Support with project governance
• Participation in face-to-face Knowledge Exchange Workshops
• Ad hoc policy advice across the two-year duration of this project

More information about RVA’s formal Research Partnerships Program can be found on RVA’s website.

The Department of Health and Aged Care has announced the Expert Advisory Group (EAG) on Genomics Australia, a new national genomics body. Congratulations to Louise Healy, Rare Voices Australia’s Education and Advocacy Manager, who has been appointed to the EAG as a consumer advocate. Louise has extensive experience as a health consumer representative and brings a wealth of rare disease knowledge and lived experience to the role. Learn more about the EAG via the Department of Health and Aged Care’s website.

What is the Expert Advisory Group?

The EAG will provide advice to the Australian Government through the department on the design, role, main priorities and key partnerships of Genomics Australia, a new national genomics body. Genomics Australia will ensure a consistent approach to support integrating genomic health technologies into Australian healthcare.

Expert Advisory Group Members

RVA congratulates those appointed to the Expert Advisory Group (EAG) on Genomics Australia:

Ms Penny Shakespeare (Co-Chair) – Co-Chair, member, Commonwealth representative
Professor Kathryn North AC (Co-Chair) – Co-Chair, member, individual technical
Mrs Jane Bennett – Member, consumer advocate
Professor Alex Brown – Member, individual technical
Dr Kevin Carpenter – Member, individual technical
Professor Jon Emery – Member, individual technical
Ms Louise Healy – Member, consumer advocate
Professor Oliver Hofmann – Member, individual technical
Professor Dorothy Keefe PSM – Member, individual technical
Mr Robert McBride – Member, individual technical
Professor Julie McGaughran – Member, individual technical
Dr Kym Mina – Member, individual technical
Ms Madeline O’Donoghue – Member, individual technical
Professor Margaret Otlowski – Member, individual technical
A/Professor Beverley Rowbotham AO – Member, individual technical
Professor Robyn Ward AM – Member, individual technical
Ms Trinity Mahede – Member, state and territory representative

The Australian Government’s National Strategic Action Plan for Rare Diseases acknowledges that genomics is a health technology with great potential for rare diseases.

Queries and More Information About Genetics and Genomics

For EAG-related queries and more information on genetics and genomics, contact the Department of Health and Aged Care: [email protected]

Rare Voices Australia (RVA) and Monash University have published Recommendations for a National Approach to Rare Disease Data: Findings from an Audit of Australian Rare Disease Registries. The report includes the findings from the Australian Rare Disease Registry Audit project, led by Monash University registry experts, Professor Susannah Ahern and Dr Rasa Ruseckaite. Importantly, it also includes strategic recommendations and associated implementation priorities for a national approach to rare disease data.

As the national peak body for Australians living with a rare disease, RVA has played a pivotal role in overseeing this critical work in recognition of the importance of rare disease registries. See this article on RVA’s website for more background information about the Australian Rare Disease Registry Audit.

A nationally coordinated and systemic approach to the collection and use of rare disease data, including registries, is a key priority of the Australian Government’s National Strategic Action Plan for Rare Diseases. The strategic recommendations and implementation priorities detailed in the report are a critical step towards achieving this goal.

Next Steps

In response to this report RVA will:

• Communicate the findings and recommendations with all stakeholders and encourage all relevant stakeholders to progress timely implementation of the recommendations;
• Seek meetings with Commonwealth, State and Territory Governments across all departments, including the Department of Health and Aged Care and the Department of Social Services, to discuss timely implementation of the recommendations; and
• Work closely with experts, including researchers and registry managers, to progress timely implementation of the recommendations, where possible and necessary.

Orphanet Journal of Rare Diseases has published the first peer reviewed article based on the audit findings.

Acknowledgements

Thank you to the rare disease community for your genuine interest in this work and to all RVA Partner groups/organisations and registry managers who dedicated their time to participate in the consultation process. RVA would also like to acknowledge the important role of RVA’s Scientific and Medical Advisory Committee (SMAC) members, whose collective expertise, guidance and professional networks were key to the audit. Additionally, thanks to the RVA Round Table of Companies (industry representatives) for contributing to the co-development of the strategic recommendations and associated implementation priorities.

Download the Recommendations for a National Approach to Rare Disease Data

Rare Disease Data: Findings from an Audit of Australian Rare Disease Registries (PDF)

The Medical Services Advisory Committee (MSAC) has published the successful outcome of Application No. 1702 – Abdominal MRI for rare genetic conditions associated with increased risk of renal tumours. This will result in abdominal magnetic resonance imaging (MRI) scans being bulk billed for people living with tuberous sclerosis complex (TSC). Access to bulk billing for MRIs allows the clinical management of TSC to align with international guidelines. View the Public Summary Document on MSAC’s website.

Rare Voices Australia (RVA) led this successful application and worked in collaboration with RVA Partner, Tuberous Sclerosis Australia (TSA). We congratulate TSA and their community on this positive outcome! RVA thanks leading nephrologists, Dr Matthew Sypek and Associate Professor Kathy Nicholls, for providing clinical expertise for this consumer-group initiated application.

Learnings for the rare disease community

As the national peak body for Australians living with a rare disease, RVA’s work is non-disease specific and is based on the commonalities of rare disease. Our advocacy focuses on rare disease policy, processes and systems. RVA used this process as an opportunity to better understand how rare disease groups/organisations can lead their own future submissions. We will share our learnings with RVA Partner groups/organisations as soon as possible.

Rare Voices Australia (RVA) is pleased to partner with the Sydney Local Health District (SLHD) to better support the estimated two million Australians living with a rare disease. With a health-service driven action strategy and Leadership Committee, the partnership aims to provide a new focus and hope for Australians living with rare conditions.

As part of the broader SLHD, the Royal Prince Alfred (RPA) Hospital has been pioneering research, innovation and clinical trials. This research includes the gene and cell therapies pursued in the Department of Cell and Molecular Therapies since 1999, which provide a potential platform technology that could be extended to diverse diseases. Progress is already being made based on pivotal clinical trials undertaken at RPA Hospital and elsewhere.

Objectives

The objectives for this exciting partnership are to strengthen the awareness, clinical management and research on rare diseases. RVA supports SLHD’s vision to revolutionise the health outlines and quality of life for people living a rare disease who are otherwise overlooked due to the rarity of their condition. To realise this vision, a dedicated SLHD Rare Diseases Steering Committee (the Committee) was established in 2022 as the first of its kind in any public health organisation in New South Wales and nationally. 

The Sydney Local Health District Rare Diseases Steering Committee

The Committee is chaired by Dr Teresa Anderson AM, Chief Executive, SLHD and Professor John Rasko AO, Head of Department, Cell and Molecular Therapies, RPA Hospital. The Committee has representation from a wide variety of medical specialties across SLHD. Nicole Millis, Chief Executive Officer (CEO) of RVA, is also on the Committee. The Committee is responsible for actioning the newly developed SLHD Rare Diseases Action Plan, driving excellence in the management and research associated with rare diseases in SLHD facilities and services, and meeting the goals outlined within the SLHD Rare Diseases Strategic Plan. Underpinning this strategy, is the Australian Government’s National Strategic Action Plan for Rare Diseases, which was launched in 2020.

Quotes: Sydney Local Health District Rare Diseases Steering Committee Members

Dr Teresa Anderson AM, Chief Executive, SLHD stated, “This exciting partnership between the District and Rare Voices Australia and the delivery of a health-service driven Rare Diseases Action Plan will truly transform the approach to rare diseases and provide hope for individuals who are often given no other options”.

Professor John Rasko AO, who has also served on RVA’s Scientific and Medical Advisory Committee since 2020, stated, “Support from our District has been overwhelming, with every clinical specialty offering representatives to the Steering Committee.”

 “We hope to encourage broad clinical awareness – rare diseases may be individually infrequent, and as such somewhat neglected, but they are collectively common,” Professor Rasko added.

RVA’s CEO Nicole Millis said, “It’s fantastic to see the Sydney Local Health District embracing the National Strategic Action Plan for Rare Diseases and leading the way in terms of health districts. Rare Voices Australia encourages all health systems and organisations to use the Action Plan to guide their work.”