Context
Any condition that affects fewer than 1 in 2,000 people is considered to be a rare disease.1,2 Approximately 80% of rare diseases have a genetic basis,3,4 but there are many other types of rare diseases, including cancers, infectious diseases, and autoimmune diseases.2 While individually rare, rare diseases are collectively common. There are over 7,000 known rare diseases, with that figure growing steadily as technologies evolve and knowledge improves.
An estimated 8% of Australians (around 2 million people) live with rare disease,6 so most health professionals will encounter patients with diagnosed and undiagnosed rare diseases during their careers.
The sparsity of clinical knowledge about rare diseases, combined with their complexity, means appropriate training and support for health professionals are particularly important. Both are often lacking, making it harder for health professionals to care for people living with rare disease.7
Note: The impact of a rare disease extends beyond the individual person living with rare disease. Therefore, when this document refers to people living with rare disease, this includes their families, carers, and support people.
Most individual rare diseases do not have their own clinical guidelines. However, regardless of the rare disease, people have many common needs, strengths, and experiences that high quality rare disease care and support can address. These common needs, strengths, and experiences overlap with several goals for health care more broadly. However, a multifaceted and cross-sectoral approach is needed for people living with rare disease to bridge the health inequities they currently experience.
Small patient populations are one reason for these inequities. Often, limited information is available about a disease, including its cause, symptoms, diagnosis, progression, and treatment. There is also little perceived incentive for the public and private sectors to fund research, or for individual health professionals to gain specialist knowledge.8 Resources can be pooled where commonalities exist, but rare diseases are highly heterogeneous. Additionally, there is also often limited awareness and understanding of most rare conditions in the wider community.9
As outlined in the Australian Charter of Healthcare Rights,10 everyone deserves the same standard of care and consideration. Recognising the common challenges and opportunities for people living with rare disease and the health professionals dedicated to their care is a significant step towards this.
Purpose
The National Recommendations for Rare Disease Health Care (the Recommendations) provide recommendations for how health professionals in Australia can provide optimal care for people living with rare disease throughout their lifetime. Where available, the Recommendations highlight enabling resources, training, and frameworks for auditing to help support their implementation.
The Recommendations are:
- Aimed at health professionals;
- Aligned with the Australian Government’s National Strategic Action Plan for Rare Diseases (Appendix 2.1);
- Based on national and international evidence and the input of people living with rare disease; and
- Disease agnostic and therefore appropriate for people living without a diagnosis.
There are multiple barriers to delivering and receiving high quality care, which also need to be addressed. The responsibility for this does not rest on the shoulders of individual health professionals alone.8 These barriers are listed below.
- Time constraints: Significant time pressures limit health professionals’ availability for additional education, collaboration, research, and service improvements.
- Lack of resources: Inequitable or insufficient distribution of the resources needed to effectively manage rare diseases.
- Systemic barriers: Health systems and reimbursement structures that do not support the needs of people living with rare disease.
- Limited populations: The smaller population sizes of people living with rare disease make it difficult for many people to build a sufficient network of colleagues or patient organisations.
The Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan)9 outlines the priorities, actions, and implementation steps required to achieve the best possible health and wellbeing outcomes for people living with rare disease. The Recommendations align with the Action Plan, which is centred around three interrelated pillars:
How to use this document
Each recommendation provides an overview of why the recommendation is important, how to implement the recommendation, and suggests indicators of good practice categorised as:
The Recommendations also embed quotes from people living with rare disease, to emphasise the importance of their lived experience in the co-development of these guidelines.
The following Appendices have been included after the recommendations to provide more context and help health professionals translate these recommendations into clinical practice. Hyperlinks throughout the document also link to relevant sections within this Appendix for ease of navigation.
| Appendix | Title | Content |
| Appendix 1 | Glossary and Abbreviations | Definition of terms and abbreviations used throughout this document |
| Appendix 2 | Enablers of Good Practice | Key resources and online courses |
| Appendix 3 | National and International Sources | Key national and international sources consulted when writing these recommendations |
| Appendix 4 | Primary Preventive Measures During Pregnancy | Preventive measures related to antenatal care |
| Appendix 5 | Development of the Recommendations | Overview of the development process for these recommendations |
Next steps
The Recommendations are a first step towards developing robust national guidelines for rare disease care. National guidelines for rare disease care must be evidence-based, with input from established rare disease networks and collaborations, including people living with rare disease, health professionals, and state and national health departments.
Development of the guidelines should be informed by further research in the following areas:
- The causes, prevention, treatment, and progression of rare diseases
- Models of care for people living with rare disease
- System level requirements for rare disease care.
This work can be supported by harnessing and expanding existing networks and collaborations. This will help to ensure meaningful input from people living with rare disease, health professionals, and state and national health departments. The guidelines will need to be a living document to respond to the rapid changes and innovation in the rare disease sector.
