Category: RVA News

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.”

In 2022, Rare Voices Australia (RVA) partnered with Mental Health First Aid (MHFA) Australia to commence work on a mental health and wellbeing project, based on recommendations in the Australian Government’s National Strategic Action Plan for Rare Diseases. Go to this article on RVA’s website for more information. RVA has continued this work in 2023 with opportunities for RVA Partner groups/organisations to participate in Youth MHFA, and Aboriginal and Torres Strait Islander MHFA training. Personnel from 62 rare disease groups/organisations completed the MHFA training in 2022. This work is part of the Rare Disease Awareness, Education, Support, and Training (RArEST) Project.

To complement this mental health and wellbeing project, and to assist those working with the rare disease community with MHFA, RVA has developed Applying Mental Health First Aid in a Rare Disease Context as a companion resource. Enrol in the course via RVA’s Online Education Portal. You will need to register via this page if you haven’t already registered on the site. Enrolment is open to all stakeholders.

‘Applying Mental Health First Aid in a Rare Disease Context’

MHFA training is not specific to the rare disease experience. The Applying Mental Health First Aid in a Rare Disease Context companion resource focuses on:

• Understanding mental health and wellbeing in the rare disease context.
• Applying MHFA in the rare disease community, including promoting awareness of available resources and referral pathways.
• The role of rare disease groups/organisations in supporting the mental health of personnel and communities.
• Self-care and support for employees and volunteers working in rare disease groups/organisations who are providing support to others.

Limitations of this companion resource

Important: Applying Mental Health First Aid in a Rare Disease Context is intended to be used in conjunction with the formal training and accreditation provided by MHFA Australia. This resource does not provide advice or recommendations on mental health and wellbeing. Individuals are encouraged to consult with relevant health professionals when accessing or utilising mental health and wellbeing resources. For immediate mental health assistance, visit the Head to Health website.

How to access the course

This training is available to all stakeholders. Access the course via RVA’s Online Education Portal. If you haven’t already, you’ll need to register on the site to enrol in the course.

Acknowledgements

This companion resource was developed as part of the RArEST Project with funding from the Australian Government.

Information presented in this course was developed in consultation with people living with a rare disease. RVA and the RArEST Project team would like to acknowledge and thank those who have contributed. Sincere thanks to the RArEST Project professional advisory group and the following organisations:

Social media can be a powerful tool for rare disease groups/organisations. It gives small, geographically dispersed rare disease communities cost-effective ways to connect, share stories and information, and access practical and social support.

• Are you a rare disease group/organisation leader or team member using social media to build community engagement?
• Would you like to establish a trusted, credible, legally compliant and safe online space for your community?
• Are you an admin or a moderator of a rare disease Facebook group(s)?
• Would you like to strengthen your online community, maximise your group’s/organisation’s online presence and create positive and valued engagement?
• Would you like to better understand your obligations and manage risks associated with moderating online communities?

If you answered yes to any of the above questions, Quiip’s Facebook Groups and Social Media Risk Training for Rare Disease Organisations is for you.

This training has been customised specifically for RVA Partner groups/organisations by Quiip, specialists in online community building and social media. The training recognises the sensitivity and complexity of the work rare disease groups/organisations do and provides targeted guidance to help leverage social media while managing potential risk for groups/organisations and individuals.

Quiip has a deep understanding of the challenges and opportunities of using social media. They have worked extensively with diverse not-for-profit groups, empowering them to make a meaningful impact through social media.

Note: this training is available to RVA Partners only. Learn more about becoming an RVA Partner on this page.

Facebook Groups and Social Media Risk Training for Rare Disease Organisations

The course consists of three modules:

Module 1: Course Overview

Module 2: Building Successful Facebook Groups

• Building Online Communities
• Defining and Establishing Your Community
• Setting Up Your Facebook Group
• Understanding Your Community Members
• Moderating the Community
• Challenges and Opportunities When Building Online Communities

Module 3: Social Media, Risk and Governance

• Types of Risk
• Managing Risk
• Moderation Framework
• Risk and Response Matrix
• Risk Scenarios
• Managing Medical and Health Related Risks
• Managing Misinformation
• Course Reflection and Evaluation

The course takes approximately 4-5 hours to complete and is self-paced.

How to access the course

This training is available to RVA Partners only. Learn more about becoming an RVA Partner on this page.

RVA Partners can access this course via RVA’s Online Education Portal. If you haven’t already, you’ll need to register on the site to enrol in the course.

Acknowledgements

Facebook Groups and Social Media Risk Training for Rare Disease Organisations has been developed for the rare disease community by Quiip with funding from RVA’s Education and Mentorship Program. We thank program sponsors BioMarin, Pfizer and Sanofi for their support.

On 13 June 2023, the Department of Health and Aged Care updated its website to state they are “working with states and territories to expand Australia’s NBS programs, and make sure all babies born have access to the same screening.” This milestone agreement ensures timely and consistent screening and wrap around care. Read the media release issued on International Neonatal Screening Day from the Department of Health and Aged Care for more information about these changes. The findings from the Consultation Survey can also now be downloaded on the website.

In addition to listing conditions currently screened, moving forward, the website also lists the following for transparency:

• Conditions not consistently screened for, agreed for implementation
• Conditions currently under review, not currently screened for
• Conditions identified for newborn bloodspot screening (NBS) technical advice

For the first time in 60 years, Australia has an agreed national list of NBS conditions and there is specific funding to achieve consistency across Australia. Additionally, these changes cement Australia as a world leader in NBS. As outlined in the Australian Government’s National Strategic Action Plan for Rare Diseases, early diagnosis is critical for better outcomes as it enables the best immediate treatment and care.

What This Means for the Rare Disease Community

Rare Voices Australia (RVA) welcomes this announcement as this marks the end of the NBS postcode lottery and enables children and families to access screening and vital specialist care. Previously, it has taken anywhere from 5 to 14 years for new conditions to be included for screening. As the national peak body for Australians living with a rare disease and as part of our Education Program, RVA is hosting a webinar to provide further detail about these changes and their impact on Australians living with a rare disease.

RVA Education Webinar – ‘Expanding Newborn Bloodspot Screening: Progress Made and Next Steps’

Webinar Details

Date: Wednesday 12 July 2023
Time: 10:30am – 12pm AEST

All are welcome to register. The webinar will consist of presentations and a Q&A session. The presentations will be recorded and uploaded to RVA’s Online Education Portal. The Q&A session will only be available to those attending live.

Submit Your Questions

You are welcome to submit your questions for consideration ahead of the webinar. Please email all questions to: [email protected]

Note: the Q&A session will only be available to those attending live.

The Webinar Will Cover:

• Expanding NBS and the Australian Government’s objectives
• Progress made regarding NBS
• States/NBS programs’ perspectives
• NBS public consultation/follow up consultation findings; actions taken; next steps and future-proofing screening
• Reflections on NBS advocacy
• The importance of these changes for Australians living with a rare disease

Presenters

Hon Mark Butler MP – Minister for Health and Aged Care

The Hon Mark Butler MP has been a Labor Member in the Federal Parliament since 2007 and is the Minister for Health and Aged Care. He served as the Member for Port Adelaide from 2007 – 2019 and after a federal redistribution, which saw the abolition of the seat of Port Adelaide, he was elected the Member for Hindmarsh.

The Minister served as Minister for Ageing and Australia’s first Minister for Mental Health in the Gillard Government. He has also held the ministries of Housing, Homelessness, Social Inclusion, Climate Change, Water and the Environment.

Before Minister Butler was elected to parliament, he worked for some of the most disadvantaged people in the community as an official with United Voice for over 15 years, including 11 years as State Secretary. Go to the Australian Labor Party’s website to read Minister Butler’s full biography.

Senator the Hon Anne Ruston – Shadow Minister for Health and Aged Care

Senator the Hon Anne Ruston has been a Senator since September 2012. She is currently the Shadow Minister for Health and Aged Care, Shadow Minister for Sport and Manager of Opposition Business in the Senate.

In July 2014, Senator Ruston was elected Senior Deputy Government Whip in the Senate and Chair of the Senate Environment and Communications Legislation Committee. She was also an active participant in the Rural and Regional Affairs and Transport Committee.

Senator Ruston was appointed Assistant Minister of Agriculture and Water Resources in September 2015. She was subsequently appointed as Assistant Minister for International Development and the Pacific in August 2018. Read Senator Ruston’s full biography via her website.

Dr Mike Freelander MP – Chair, Standing Committee on Health, Aged Care and Sport; and Co-Chair, Parliamentary Friends of Rare Diseases

Dr Mike Freelander is a local paediatrician who has dedicated his life’s work to making sure kids get the best start possible.

Dr Freelander completed his training at the Children’s Hospital in Camperdown and started his residency as a paediatrician at Campbelltown Hospital in 1984. Dr Freelander and his wife Sharon moved to the Macarthur region that same year, where they raised their six children. In 1990 Dr Freelander took on the role of Head of Paediatrics at Campbelltown Hospital.

Dr Freelander has seen how important it is that families in Macarthur have quality health care. He set up a practice in Campbelltown, and later in Camden, to make sure families could access health care in Macarthur, when and where they needed it. Read Dr Freelander’s full biography on the Australian Labor Party’s website.

Lisa Schofield PSM – First Assistant Secretary Cancer, Hearing and Chronic Conditions, Department of Health and Aged Care

Ms Lisa Schofield has been leading the Cancer, Hearing and Chronic Conditions Division as the First Assistant Secretary since August 2022. In this role, she manages the National Cancer Screening Programs and the Hearing Services Program, which she has done since February 2022. She also manages policy and projects for palliative care, cancer, newborn screening, chronic conditions and population screening.

Since joining Health in May 2020 until the end of 2021, Lisa managed the Health Economics and Research Division for a short time, responsible for the Medical Research Future Fund and health economic and data analysis, before establishing and managing the COVID-19 Vaccination Program. She drove the strategy and policy for consideration by the Australian Government and the states and territories, through the National Cabinet.

Lisa has almost 20 years’ experience working in the Australian Government where she has held policy leadership roles in health, offshore resources, innovation, and higher education.

Ms Schofield received her Public Service Medal in the Australia Day Honours List of 2021 for outstanding public service in the delivery of the treaty establishing maritime boundaries between Australia and Timor-Leste.

Dr Kevin Carpenter – Chief Executive Officer, Human Genetics Society of Australasia

Kevin Carpenter trained in Clinical Chemistry in Sheffield in the UK. He obtained an MSc from the University of Leeds and a PhD with the University of Sheffield, and entered the field of inborn errors of metabolism at Sheffield Children’s Hospital in the mid-1980s.

He was Principal Scientist at the NSW Biochemical Genetics Service from 1994 to 2017 and is currently the CEO of the Human Genetics Society of Australasia (HGSA). He is a past President of the HGSA, and a Founding Fellow of the Faculty of Science RCPA.

Nicole Millis – Chief Executive Officer, Rare Voices Australia

A qualified social worker, Nicole has both personal and professional experience in the rare disease sector. Nicole has engaged in rare disease advocacy since 2008 and has extensive experience regarding access to treatments. Since 2018, Nicole has held the role of consumer nominee on the Life Saving Drugs Program Expert Panel. Under Nicole’s guidance, RVA led the collaborative development of the National Strategic Action Plan for Rare Diseases, the first nationally coordinated effort to address rare diseases in Australia.

Host/Q&A Session Moderator

Louise Healy – Education and Advocacy Manager, Rare Voices Australia

Louise has extensive experience working as a consultant and coach in the corporate sector and has post graduate qualifications in psychology. Her connection with rare conditions began when her first child was born with a rare metabolic disorder. Louise has been involved in rare disease support and advocacy for over 10 years and she is the current Vice President of the Metabolic Dietary Disorders Association (MDDA). She has led successful advocacy campaigns for access to medicines and support programs for people with rare disorders of protein metabolism. Louise is a previous RVA Board member, current member of the Queensland Genomics Community Advisory Board and a founding board member of the Global Association for PKU.

Why Changes to Newborn Bloodspot Screening Are Important

NBS is an important program that supports the earliest possible diagnosis of some rare diseases. The rare disease community has been calling for increased equity, timeliness and consistency of screening for several years.

RVA has been highlighting the need for increased sustainability, equity, transparency and consistency of NBS through targeted and informed advocacy at both the Commonwealth and state levels. We will continue to work alongside all governments as they continue to expand NBS programs.

Rare Voices Australia (RVA) is pleased to be the lead consortium partner on The Navigator Project, which has been named the recipient of the Rare and Complex Disease Telehealth Nurse Program grant. Read the Australian Government’s media release.

The funding of up to $2.48 million will support the estimated two million Australians living with a rare disease to navigate the health system, including via the assistance of telehealth nurses. This activity is scheduled to run over three years from mid 2023.

The Navigator Project and the National Strategic Action Plan for Rare Diseases

The Navigator Project addresses the specific criteria of the open competitive grant opportunity and responds to several needs, priorities, actions and implementation areas identified in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan). Importantly, this work will accelerate progress towards achieving the Action Plan’s vision:

The best possible health and wellbeing outcomes for Australians living with a rare disease.¹

The Navigator Project also responds to ongoing stakeholder feedback from various consultations and projects regarding the gap in equity for all Australians living with a rare disease. Equity of access is a foundation principle of the Action Plan. ¹

Key aspects of The Navigator Project

Collaboration, sustainability, data collection and evaluation are key aspects of The Navigator Project, which sees RVA partnering with the Child and Adolescent Health Service Rare Care Clinical Centre of Expertise for Rare and Undiagnosed Diseases located at Perth Children’s Hospital and Sydney Children’s Hospitals Network. Both consortium partners will deliver the necessary expertise, experience and infrastructure required to support telehealth nurse services. RVA will also partner with three consumer-led rare and complex disease organisations currently providing an existing telehealth nurse service navigation program.

The Navigator Project will:

• Deliver a much-needed navigation service, while identifying gaps and leveraging existing strengths in the system
• Build service navigation capacity within both clinical and consumer-led services

With its strong focus on data collection and evaluation, The Navigator Project increases the potential for system improvement as the data collected will guide future government investment.

The Navigator Project has three core components:

1. RARE Helpline
2. Telehealth nurse service navigation trial sites
3. Engagement with three consumer-led rare and complex disease organisations

1. RARE Helpline

Purpose: To provide service navigation support to Australians living with a rare disease.

Primarily staffed by appropriately trained agents, the RARE Helpline will provide timely access to information and answer key questions people living with a rare disease often face.

The RARE Helpline will:

• Support people to connect with existing information that is reliable
• Provide resources that respond to people’s specific needs
• Help to increase people’s health literacy and engagement with care and support services
• Assist in connecting people with existing health services and/or professionals where possible

The RARE Helpline will complement work already being undertaken on the Rare Awareness Rare Education (RARE) Portal for rare diseases.

2. Telehealth nurse service navigation trial sites

Purpose: To provide targeted nurse-led support for people with highly complex conditions or issues where information and access to services may be restricted or particularly challenging.

Rare diseases typically display high levels of symptom complexity and in some cases, navigating people to well defined care and support services is not possible. The two telehealth sites will be staffed by people with specialist rare disease expertise and experience, particularly in relation to working with several of the priority populations identified in the Action Plan:

• Those with an undiagnosed rare disease
• People living in regional, rural and remote areas
• Aboriginal and Torres Strait Islander people
• Those living with an intellectual disability

Embedding telehealth nurses within existing rare disease clinical services:

• Increases clinical knowledge and influence within the health system
• Provides important professional development opportunities for health professionals and those undertaking training
• Encourages more effective coordinated care within the health system

3. Engagement with three consumer-led rare and complex disease organisations

Purpose: To contribute to The Navigator Project’s overall data collection and reporting.

RVA will engage with three consumer-led rare and complex disease organisations already providing disease-specific telehealth service navigation. Three organisations will receive funding through The Navigator Project for data collection, project reporting and advisory consultation. Selection criteria will be communicated across RVA’s public facing channels (website, social media and our monthly eNewsletter). Interested organisations will have the opportunity to lodge an Expression of Interest to detail their demonstrated expertise and experience with telehealth nurse service navigation.

Queries about The Navigator Project

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

Reference

1. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available from: https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf