Author: Sarah Cannata

‘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 (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 [email protected].

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

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.