STRENGTHENING AUSTRALIA’S RARE DISEASE WORKFORCE

Gaps, learnings and opportunities

Individually rare; collectively common. Rare disease affects approximately 2 million Australians. living with rare disease face common challenges, including high levels of symptom complexity and multisystem involvement, significant diagnostic delays, limited care and treatment options, as well as psychosocial issues.

Some of these challenges can be compounded for people living in rural and remote communities, Aboriginal and Torres Strait Islander peoples, and those from culturally and linguistically diverse backgrounds.

Australia’s health and social care systems, which are designed for more common conditions, engender inherent disadvantages and significant challenges for people living with rare disease and the workforce striving to care for them. Best practice in rare disease care requires access to multidisciplinary teams and specialist rare disease expertise. With fewer than 5 per cent of rare diseases having an effective treatment 2, best practice in rare disease care must also embed research and clinical trials into clinical practice. Yet Australia faces inescapable geographical challenges in distributing and delivering these services and expertise to a small and dispersed population. Many of these challenges can be addressed by a coordinated nationwide, multidisciplinary, crosssector rare disease workforce – networked centres of rare disease expertise.

A national rare disease workforce strategy that responds to current and future demands, including the impact of genomics, is a key priority of the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan).1

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) led research to gather evidence as an initial step. RVA established an expert steering committee and collaborated with clinicians, researchers, patients, carers, advocates and industry. This work led to the development of a national workforce strategy for a significant subset of the rare disease workforce—the rare metabolic disease workforce.3 Rare metabolic diseases are a highly heterogenous group of

1 Commonwealth of Australia. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available from: https://www.health.gov.au/resources/publications/ national-strategic-action-plan-for-rare-diseases

2 Kaufmann P, Pariser AR, Austin C. From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research. Orphanet J. Rare Dis. [Internet]. 2018;13(1):196. Available from: https://doi.org/10.1186/s13023-018-0936-x

3 Rare Voices Australia and Equity Economics (2023). National Strategy for Australia’s Rare Metabolic Disease Workforce, February 2023. Available from: https://rarevoices.org.au/wp-content/ uploads/2023/03/RareMetabolicDiseaseWorkforce.pdf poorly understood, complex, multisystemic conditions, requiring care from a variety of specialists—all features closely representing rare diseases more broadly. Identifying this workforce as a basis to understanding the current state of play for rare disease care was driven by anecdotal evidence highlighting alarming workforce gaps from rare metabolic patients and the workforce, including representatives from leading special interest group of the Human Genetics Society of Australasia—Australasian Society for Inborn Errors of Metabolism.

National Goals for a Strengthened Rare Disease Workforce. Based on findings from the White Paper4 and the Strategy3 – informed by people living with rare metabolic disease and the rare metabolic disease workforce.

The Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia was published in 2022 (White Paper).4 The White Paper highlighted the breadth and scope of specialist metabolic services around Australia through the combined efforts of committed clinicians, hospital staff, patient groups, families, and allied health providers. An emerging area of medicine, Australian specialist metabolic services are committed to ensuring patients with rare metabolic conditions receive the best care possible. However, critical shortages in professional expertise and resources are hindering these efforts. Everyone who contributed to this research expressed strong frustration and a palpable desire for change.

Following publication of the White Paper, RVA engaged several rare disease patient group leaders, members of government, state health departments and professional medical groups in one-on-one meetings and forums to co-design a National Strategy for Australia’s Rare Metabolic Disease Workforce (the Strategy).3 The Strategy is an evidence-based, expert-backed framework of goals, recommendations and priority actions that address current high levels of unmet need through a nationally consistent and sustainable rare metabolic disease workforce

4 Equity Economics and Rare Voices Australia (2022). Rare Metabolic Disease Workforce White Paper Towards a Strengthened Rare Disease Workforce for Australia, February 2022. Available from: https://rarevoices.org.au/wp-content/uploads/2022/02/RareMetabolicDiseaseWorkforce_ WhitePaper.pdf resourced to respond swiftly to innovation and deliver best practice care. The Strategy’s goals for a recognised, connected, consistent, sustainable and innovative rare metabolic disease workforce, are designed to inform broader rare disease workforce challenges in Australia.

Best Practice In Rare Disease Care Cannot Be Achieved Without Systemically Embedding Research And Clinical Trials Into Regular Clinical Practice And Service Delivery

For many people living with rare disease, clinical trials are the only way to access treatment.1 Evidence from specialist metabolic services in the White Paper highlighted significant workforce gaps, making it impossible for most services to facilitate clinical trials. This means eligible Australians living with rare disease are routinely missing out on new therapies. Another barrier to clinical trials in Australia is the lack of a nationally coordinated approach to rare disease data collection, which limits the visibility of eligible patients for recruitment. Urgent investment is needed to embed dedicated staff and infrastructure within specialist rare disease services to enable rare disease data collection, and access to research and clinical trials as part of routine care.

INNOVATIVE SOLUTIONS TO A GLOBAL WORKFORCE CHALLENGE – AUSTRALIAN CENTRES OF RARE DISEASE EXPERTISE

The rare disease workforce must be equipped and nuanced to manage over 7,000 known rare diseases.

Centralising rare disease expertise and resources would overcome challenges of geographical spread and the inherent scarcity of rare disease patients and specialist expertise. There are a growing number of rare disease centres of expertise emerging around Australia, with some focused on a particular rare disease or group of rare diseases, such as the Queensland Lifespan Metabolic Medicine Service (QLMMS), and others with a broader rare disease focus, such as the Rare Care Clinical Centre of Expertise for Rare and Undiagnosed Diseases (RCC), in Perth Children’s Hospital. Networked centres of rare disease expertise, that meet the aforementioned goals for a strengthened rare disease workforce, would ensure all Australians living with a rare disease have equitable access to the same specialist care, wherever they live.

Author: Falak Helwani is the Research and Evaluation Manager at RVA. Falak is also a mother to 2 children living with rare disease.

Nicole Millis is the Chief executive Officer at RVA. A qualified social worker, Nicole has both personal and professional experience in the rare disease sector. 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.