Rare Metabolic Disease Workforce Study – September 2021 Activity Update

‘Sustainable systems and workforce’ is one of three foundation principles of the National Strategic Action Plan for Rare Diseases (the Action Plan). One of the key priorities of the Awareness and Education Pillar of the Action Plan is to ‘develop a national rare disease workforce strategy that responds to current and future demands, including the impact of genomics’. To progress work on this priority, Rare Voices Australia (RVA) engaged Equity Economics and Development Partners to undertake a study focused on workforce issues and sustainability in inherited metabolic disease care, as a case study of the broader challenges evident in the rare disease workforce. The study was developed with the support of a steering committee, which includes representation from the Australasian Society for Inborn Errors of Metabolism (ASIEM). The study has drawn on the views and experiences of the metabolic healthcare workforce, industry organisations involved in the development of therapies and technologies for rare diseases, as well as patients, carers and families navigating the healthcare system.

Why inherited metabolic diseases?

The metabolic workforce responds to many rare diseases. It also has a strong professional special interest group of ASIEM formed under the Human Genetics Society of Australasia (HGSA). Anecdotally, RVA knows there are many strengths and a variety of clinical settings responding to rare metabolic diseases around Australia. Coordinated care models differ in each state and often within the same disease. Before the commencement of this study, RVA was aware, from both clinicians and patients, of issues with workforce sustainability and gaps. We also noted the urgency of these issues, which prompted metabolic clinicians in recent years to make representations to Australia’s Minister for Health. A metabolic workforce strategy will provide a holistic snapshot of the system and identify areas of synergy with all rare diseases. The goal is to build a Strategy that informs:

  • Better health and wellbeing outcomes for patients and families.
  • Greater knowledge sharing for best practice.
  • More sustainable systems of metabolic care around Australia
  • Improved productivity within the rare disease sector.

The research to deliver these goals included:

  • Appointment of external consultants, Equity Economics and Development Partners, to undertake this research. Their lead economist, Angela Jackson, is experienced in similar rare disease projects through her work on The McKell Institute ‘Disability & Rare Disease: Towards Person Centred Care for Australians with Rare Diseases’ and ‘Funding Rare Disease Therapies in Australia – Ensuring Equitable Access to Health Care for All Australians’ reports.
  • Formation of a Steering Committee with 10 members, with representation from RVA and the metabolic workforce from a range of roles and states.
  • A short, targeted literature review and broader desktop research to identify best-practice models, both nationally and internationally, for diagnosis, treatment, care and support of children and adults with rare metabolic conditions and their families.
  • A specialist Metabolic Workforce Questionnaire to identify the current make-up of the specialist metabolic workforce in each state and territory and the strengths, stressors and future needs of this workforce.
  • A Patient Survey to understand the lived experiences of people accessing the metabolic healthcare workforce.
  • An Industry Survey to understand the current strengths and challenges of introducing new treatments, health technologies and clinical trials for rare metabolic diseases.
  • Three Workforce Focus Groups with 18 metabolic workforce specialists working across all states and territories to discuss and build on the themes that emerged from the Metabolic Workforce Questionnaire and formulate actions and recommendations.
  • One Patient Focus Group with representatives from eight of RVA’s Partner organisations to collect and understand the stories and experiences of patient communities navigating metabolic healthcare.
  • Steering committee expert input and guidance into key parts of the research process. 

Thank you

RVA would like to extend a heartfelt thanks to all of the patients and carers who took the time to complete the patient survey. We are also grateful to the following RVA Partner organisation leaders for their participation in patient focus groups:

  • Australian Cystinosis Support Group
  • Australian NPC Disease Foundation Inc.
  • Australian Pompe Association
  • Metabolic Dietary Disorders Australia
  • Fabry Australia Inc.
  • Friedreich Ataxia Network
  • Mito Foundation
  • Sanfilippo Children’s Foundation

Your time spent collating the experiences of your patient communities to inform this work will provide invaluable insight for the recommendations included in the final Strategy.

RVA sincerely thanks our steering committee and the clinicians, nurses, diagnostic scientists, dietitians and all metabolic healthcare support staff and centres who contributed to the workforce survey and focus groups. We appreciate that this was a complex and lengthy task for many of you, but we are humbled by your support of this work and your selfless dedication and generosity to the patients you serve. Thank you also to members of RVA’s Round Table of Companies for their valuable contributions to the industry survey arm of this work.

The data collection phase of the study is now complete. Equity Economics and Development Partners are now collating the data to map the make-up of the rare metabolic workforce in Australia – including strengths, gaps and pressure points across all jurisdictions. A draft Interim Strategy will be ready for review by the steering committee in mid-October, with a view to finalise the Strategy for delivery and publication in December 2021. Angela Jackson will also briefly speak about this work as part of the 2021 Virtual National Rare Disease Summit.

The Rare Metabolic Disease Workforce Study was commissioned by RVA with independent funding assistance from Sanofi Genzyme.

Rare Voices Australia Research Update: April — July 2021

Rare Voices Australia (RVA) has continued investing heavily in rare disease research in 2021 to gather evidence for policy reform that leads to better outcomes for Australians living with a rare disease. We are dedicated to building an active presence in the rare disease research arena. At RVA, we work across the research continuum to identify needs or gaps, develop research questions, and engage in research co-design. RVA supports the need for high-quality collaborative research, welcoming genuine partnerships (see RVA’s Guidelines for Research Partnerships) with groups planning or undertaking research of all types that broadly aligns with one or more of the research priorities detailed in the National Strategic Action Plan for Rare Diseases (the Action Plan). We also conduct and commission field research to build evidence for disease prevention, better clinical outcomes, and access to government-funded treatments, diagnostic tools and care pathways for all Australians living with a rare disease.

Since the launch of the Action Plan by the Minister for Health in February 2020, with bipartisan support, a pragmatic shift has highlighted the importance of investing in rare disease research in Australia. This is evident in recent and ongoing investments of the Medical Research Future Fund (MRFF) into Rare Cancers, Rare Diseases and Unmet Need, and the Genomics Health Future Mission.

Research at RVA is collaborative, person-centred and broadly applicable to all rare diseases. RVA aims to invest in all types of rare disease research, including rare disease coding, data collection, fundamental discovery research, qualitative research, pre-clinical testing, diagnostics and clinical trials. RVA continues to make significant contributions to rare disease research in ways that progress the implementation of the Action Plan. Some of this work is showcased in the paragraphs that follow.

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

RVA has recently commissioned Equity Economics to gather evidence around existing strengths and gaps in the rare disease workforce, using the rare metabolic workforce as an example. According to anecdotal evidence from the metabolic healthcare workforce, the number of qualified metabolic specialists is plummeting, and we are not prepared for future demand. To progress this work, we have sought input from metabolic patients and the metabolic healthcare workforce to get a holistic snapshot of the healthcare system to inform a more sustainable and equitable metabolic workforce. The outcomes of this case study will highlight synergies across rare disease healthcare, which we can leverage and apply more broadly across the sector.  

Action 3.1.4: Develop a national approach to person-centred rare disease registries to support national standards, best practice and minimum data sets.

Multiple research papers and stakeholder consultation processes in Australia have identified the need for a national, coordinated, and systematic approach to the collection and use of rare diseases data, including registries. According to EURORDIS–Rare Diseases Europe, rare disease registries are ‘indispensable infrastructure tools for translating basic research and clinical expertise into therapeutic tools’. Registries are vital to growing our basic understanding of rare diseases, developing new treatments, and improving patient care. However, despite the value of clinically-led patient registries in particular, infrastructure for rare disease registries in Australia is not a priority. RVA recognises registries as an effective way to improve rare disease data collection and use. In 2018, RVA established the National Alliance of Rare Disease Registries to bring registry operators together to build a national strategy and foundation for rare disease registries, with the aim of attracting federal investment for registry sustainability. To progress Action 3.1.4 further, RVA are collaborating on an Australian rare disease registry scoping project led by Professor Susannah Ahern, head of the Registry Science and Research Program, and Doctor Rasa Ruseckaite, deputy head of the Clinical Outcomes Data Reporting and Research Program, at Monash University. Watch this space for more updates on this important work.

In-kind support for researchers

RVA’s expertise in rare disease advocacy, policy and Heath Technology Assessment processes are sought after by researchers because they are critical to systemic reform. Advocacy for systemic reform was emphasised in the stakeholder consultations that informed the development of the Action Plan. To this end, RVA has been providing letters of support and other in-kind support to rare disease researchers seeking funding for research broadly applicable to, or at least a steppingstone to, broader systemic change for rare disease care. RVA’s recent contributions of in-kind support to grants and our work co-writing grants have been exceedingly successful. This can be seen with the announcement of MRFF funding for the Genomics Health Future Mission awarded to some of RVA’s research partners, and RVA’s award of funding from the Australian Government’s Rare Disease – Support, Education and Training Grant. Click here to read more about the Rare Awareness, Education, Support and Training (RArEST) project.

Other ways RVA has been engaging in research in 2021

Earlier this year, RVA’s CEO, Nicole Millis, co-authored a paper published in the Journal of Paediatrics and Child Health. This paper brought the Action Plan into focus. It shone a light on the need to build knowledge with the input of all stakeholders, including researchers—a need to which RVA is committed. The paper also proves that patient advocate leaders and the public can and should be published in peer-reviewed journals. RVA has also been:

  • Participating as an independent patient advocate on steering committees or patient advisory committees for clinical trials and other relevant projects.
  • Leading the collaborative development of the Rare Awareness Rare Education (RARE) Portal, a living website of rare disease information and resources for people living with a rare disease and their families and carers, researchers, clinicians and allied health professionals.
  • Participating in peer review processes on relevant grant review panels.
  • Influencing government investment in research through consumer-centred systemic advocacy. For example, RVA motivated broader and ongoing investment in the MRFF Rare Cancers, Rare Diseases and Unmet Need Grant opportunity.
  • Providing education for RVA Partner Organisations on ways to engage meaningfully in research, via RVA’s Rare Disease Research in Australia three-part webinar series (available soon on RVA’s Online Education Portal, which is almost ready to launch).

If you are a researcher looking to partner with RVA, please read RVA’s Research Partnership Guidelines and contact us if you have any questions. Or, if you are an RVA Partner or a rare disease support organisation wanting to learn more about engaging effectively in research, please contact RVA at research@rarevoices.org.au.

Patient or Carer Experience Survey: Strengthening the Rare Disease Healthcare Workforce in Australia

Rare Voices Australia (RVA) has engaged Equity Economics and Development Partners to undertake a rare metabolic disease workforce study. This study aims to understand the current strengths and weaknesses in the healthcare provided to metabolic patients in Australia. The study will collect input from the metabolic healthcare workforce (e.g. clinicians, nurses, dietitians, genetic counsellors, diagnostic scientists) patients, carers and families navigating the healthcare system. Developing a national rare disease workforce strategy that responds to current and future demands is a key priority of the National Strategic Action Plan for Rare Diseases – and it needs the patient voice and expertise.

As part of this study, we are conducting a Patient or Carer Experience Survey to understand the lived experiences of people accessing the metabolic healthcare workforce. The Survey will close at 17:00 (AEST) on Tuesday 7 September 2021.

If you or someone you care for has a rare metabolic disease, or accesses metabolic services to treat a rare disease, please complete the survey.

Please share this survey with your network so we can reach as many people as possible. This important work will create evidence to build on strengths and fill gaps in metabolic healthcare for all Australians living with a rare disease. 

Rare Voices Australia Education and Mentoring Update: May – July 2021

Rare Voices Australia’s (RVA) Education Program and mentoring support is tailored towards the needs of individual RVA Partner organisations and their unique strategic goals and aims. 

RVA’s Education Program

RVA’s Education Program includes regular education webinars, sessions for individual organisations, customised mentoring support and a suite of education resources, including our soon-to-be launched Online Education Portal. Click here for more information about our RVA Partner benefits and how to become an RVA Partner.

May – July 2021 update

Mentoring support

We have provided mentoring support to RVA Partners across a range of areas including Pharmaceutical Benefits Advisory Committee (PBAC) applications, research, political advocacy for legislative change, working with clinical trials investigators, research collaborations, lodging Government submissions, centres of excellence and newborn screening. RVA’s mentoring support often sees us leveraging our extensive network and drawing on the deep and broad expertise of our Scientific and Medical Advisory Committee (SMAC). 

Please contact Louise, RVA’s Education and Advocacy Manager, regarding all mentoring enquiries: education@rarevoices.org.au

Tailored education sessions

RVA has delivered tailored education sessions to a number of RVA Partner organisations and their communities. The following topics have been covered to date:

  • Introduction to Advocacy
  • Understanding Drug Development and Approval Processes in Australia
  • Understanding the National Strategic Action Plan for Rare Diseases
  • Tips for Making a Consumer Comment to the PBAC
  • Political Advocacy Strategies

RVA Partner organisations are welcome to request a customised session about a topic relevant to their community. Contact Louise to suggest a topic for a future session: education@rarevoices.org.au

RVA Education webinars

RVA has facilitated the following education webinars as part of our Education Strategy:

  • Fundraising Approaches for Rare Disease Organisations
  • Rare Disease Research in Australia (three-part webinar series)

Limited places are still available to attend the research webinars. Learn about webinar one on Thursday 29 July and webinar two on Thursday 5 August. To RSVP, reach out to Louise: education@rarevoices.org.au

RVA has also facilitated additional webinars to respond in a timely manner to pressing issues that impact the rare disease community.

Online Education Portal (coming soon)

Our team has been progressing work on our new Online Education Portal, which will be launching soon. All content will be available to RVA Partners.

A number of emerging and newly established rare disease organisations are currently road testing a draft version of our Guide to Starting a Rare Disease organisation in Australia. Once finalised, the Guide will be available online and as a hardcopy.

We have also been developing numerous online programs that will be released soon to RVA Partner organisations for feedback. They include:

  • Amplifying Advocacy Using the National Strategic Action Plan for Rare Diseases
  • How to Illuminate Landmarks to Celebrate Awareness Days

Our team is very excited to launch these self-paced programs that will be available on a 24/7 basis! We will also be developing further online learning resources.

It is always a great pleasure to support our RVA Partners in the important work they do. The passion, commitment and dedication of this community is truly inspiring.

Click here for more information about becoming an RVA Partner.


RVA is Hiring: Project Officer – Western Australia

RVA is looking for a Project Officer in Western Australia to join our passionate and dedicated team! RVA is Australia’s national non profit peak body, representing people who live with a rare disease. We are dedicated to working with all stakeholders to drive the best outcomes for Australians living with a rare disease. 

Download this PDF for the full position description. Applications close 18 July 2021.

RVA Partner Education Webinar Series – Rare Disease Research in Australia

Rare Voices Australia (RVA) is hosting an education webinar series for RVA Partner organisations that focus on research as one of their key strategic areas.

Such research could include discovery research, natural history research, or research to support Health Technology Assessments (HTA) for the Pharmaceutical Benefits Advisory Committee (PBAC). The webinar series  will include three sessions that run for two hours each.

Note: these sessions are open to RVA Partner organisations only. If you are not an RVA Partner and would like to attend, click here for more information about becoming an RVA Partner.

RVA Education Webinar Series Details:


Session 1: Research Foundations

Date: Thursday, 29 July
Time: 12pm – 2pm (AEST)
RSVP: COB 22 July to: education@rarevoices.org.au

Webinar Outline

Working Effectively with Rare Disease Researchers with Hon Associate Professor Carol Wicking
Carol is an experienced rare disease researcher and is the former Chair of RVA’s Scientific and Medical Advisory Committee (SMAC).

Ethical Considerations in Rare Disease Research with Falak Helwani

Falak is RVA’s Research and Evaluation Officer.


Session 2: Building a Person-Centred Rare Disease Research Strategy

Date for Session 2: Thursday, 5 August
Time: 12pm – 2pm (AEST)
RSVP: COB 29 July to: education@rarevoices.org.au

Webinar Outline

Developing a Rare Disease Research Strategy with Lisa Melton   

Lisa is the Research Manager at RVA Partner, Sanfilippo Children’s Foundation.

Involving Everyone in Research Codesign with Jack Nunn

Jack is a researcher and member of the Medical Services Advisory Committee’s (MSAC) evaluation subcommittee. He is also the Director and Founder of Science for All.


Session 3: Research for Health Technology Assessment

Date for Session 3: Friday, 13 August
Time: 12pm – 2pm (AEST)
RSVP: COB Friday, 6 August to: education@rarevoices.org.au

Webinar Outline

What Type of Consumer Led Research Can Add Value in HTA with Jo Watson

Jo is Deputy Chair of the PBAC.

Case Study: Collecting Consumer Data to Help Inform HTA of Treatments for Spinal Muscular Atrophy (SMA) with Julie Cini

Julie is the CEO of RVA Partner, SMA Australia.

Rare Voices Australia Partners with the Western Australian Department of Health

Rare Voices Australia (RVA) is pleased to partner with the Western Australian Department of Health (WADOH) on three projects to progress the implementation of key aspects of the National Strategic Action Plan for Rare Diseases (the Action Plan) in Western Australia (WA).

The first project sees RVA partnering with the WADOH to update data systems to progress Action Plan implementation in the WA health system. The second project focuses on rare disease and mental health. The final project will explore creating meaningful rare and undiagnosed disease consumer involvement.

RVA Partner Education Webinar: Sustainable Funding and Fundraising for the Rare Disease Sector

Sustainable, secure funding remains one of the key challenges for rare disease organisations. RVA is hosting an education webinar for Rare Voices Australia (RVA) Partner organisations that is designed to assist you in considering your organisation’s approach to fundraising and how to manage funds generated.

The webinar will draw on the experiences of the rare disease community, as well as fundraising and financial professionals.

RVA Education Webinar Details:

Date: Wednesday 28 April

Time: 10:30am – 2:30pm AEST

RSVP: COB Friday 23 April to: education@rarevoices.org.au

Note: the session is open to RVA Partner organisations only. If you are not an RVA Partner and would like to attend, click here for more information about becoming an RVA Partner.

Webinar Outline

The Bloody Long Walk with Sean Murray, CEO of RVA Partner, Mito Foundation

Sean will share his unique insights as to how Mito Foundation built this successful fundraising event, including lessons learned and important considerations regarding event-based fundraising for rare disease organisations. Sean is also a founding director of RVA Partner, Childhood Dementia Initiative.

Partnering with Industry with Nicole Millis, CEO, RVA

Nicole will share RVA’s approach to pharmaceutical industry sponsorship, exploring the opportunities and some of the potential pitfalls, including how to manage these pitfalls.

Your Supporters are your Most Valuable Asset with Bianca Crocker, Founder and CEO, the Small Non-Profits Alliance and MD of Fish Community Solutions

Bianca will draw on her 15 years’ worth of experience in the non-profit sector as she explores why your supporter base is your most valuable asset. Bianca specialises in strategy, fundraising and communications.

Introduction to Grant Seeking and Writing with Alissa Bermingham, Strategic Grants

Strategic Grants is an industry leader in providing charities and non-profits with strategic advice around setting up effective grant-seeking strategies. This session will help your organisation to set a solid foundation for grant seeking and writing.

Financial Management and Cashflow Planning for NFPs with Wil Honner, PwC Australia

Wil is a Director in PwC’s Business Recovery Services Group and has been helping businesses with rapid profit improvement in Australia and the United Kingdom for over 20 years. Wil has a particular focus on building sustainability within not-for-profit (NFP) businesses to enable NFPs to better achieve their long-term goals.

2021 Rare Disease Day Media Pack

Rare Disease Day will be marked on Sunday 28 February. The main objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on people’s lives.

A number of landmarks around Australia will be illuminated to mark Rare Disease Day (click here to see the full list).

Rare Voices Australia (RVA) has put together a Media Pack for any media activity you or your organisation would like to engage in ahead of Rare Disease Day.

Click here to access the media release template [Word].

Click here to download a one-pager with more information about rare diseases, Rare Disease Day and RVA [PDF].

You can also direct any media looking for more information about rare diseases here. All Rare Disease Day assets can be downloaded from the official Rare Disease Day website.

RVA Partners that would like assistance with any planned media activities are encouraged to reach out to RVA directly: communications@rarevoices.org.au

RVA is Hiring: Research & Evaluation Officer

Organisation : Rare Voices Australia
Location : Australia (The successful applicant may be based in or near any Australian capital city or major regional centre.)
Work type : Part-time
Profession : Policy & Research
Sector : Other
Salary type : Annual Package
Salary : $80k per annum full-time equivalent pro rata, plus super
Application closing date : 31 Jan, 2021

About the role

The Research and Evaluation Officer will play a key role in facilitating the collaborative implementation of the National Strategic Action Plan for Rare Diseases (the Action Plan), including leading the development of an online digital repository. This role will source and conduct high quality evidence-based research and program evaluation to support RVA’s advocacy, policy development and education activities. This role will also cultivate research partnerships with external organisations. This position would be well suited to an individual who is skilled in strategic research and evaluation, has strong communication skills and who enjoys working collaboratively as part of a team.

About the organisation

Organisation Name : Rare Voices Australia

Rare Voices Australia (RVA) is Australia’s national non profit peak body, representing people who live with a rare disease. RVA is dedicated to working with all stakeholders to drive the best outcomes for Australians living with a rare disease.

  • We provide a strong unified voice to advocate for rare disease policy reform, as this is essential to improving the lives of the estimated two million Australians living with a rare disease.
  • We progress the collaborative implementation of the Action Plan. RVA led the collaborative development of the Action Plan, which was launched in February 2020 by the Australian Government with strong bipartisan support. Developed ‘by the rare disease sector, for the rare disease sector,’ the Action Plan is the first nationally coordinated effort to address rare diseases in Australia.
  • We provide leadership and advocacy, raise awareness of issues and influence policy by engaging with all stakeholders in the rare disease sector and facilitating collaboration.
  • Our collaborative approach to working with our RVA Partners and stakeholders ensures our actions are well considered and well targeted, sustainable, and geared towards achieving a high collective impact.

Our national team is small, collaborative and strategic. We are innovative thinkers who are nimble and proactive. We are comfortable working remotely as our team members are located across Australia. We all pitch in when needed, and act with the highest level of integrity and respect for our RVA Partners and stakeholders. We thrive on achieving progress on the big issues for people living with a rare disease.

How to apply

Position Description : PD Research & Evaluation Officer – January 2021

Forward your application addressing the Selection Criteria, as well as a copy of your CV to Nicole Millis: nicole.millis@rarevoices.org.au by 31st January 2021

Please quote in application: Research & Evaluation Officer