For all health professionals
The Recommendations are not limited to rare disease specialists. They provide principles that can support health professionals who encounter people living with rare disease across the health system.
Australian-first national guidance
Practical guidance for providing high-quality, person-centred rare disease care.
Australia’s first National Recommendations for Rare Disease Health Care help health professionals provide quality care for people living with rare disease — including people with a diagnosed rare disease and those who have not yet received a diagnosis.
Overview
The National Recommendations provide disease-agnostic guidance for health professionals caring for people living with rare disease, including people whose condition remains undiagnosed.
Across rare diseases
There are thousands of rare diseases, and individual conditions may be unfamiliar to the health professionals a person encounters. The National Recommendations focus on the common challenges and needs that can arise across rare disease health care.
This disease-agnostic approach means the Recommendations can support care across different conditions, professions, services and stages of the health care journey rather than requiring a separate framework for every rare disease.
Broadly applicable
The Recommendations provide a common foundation that can be applied across professions, care settings and rare disease journeys.
The Recommendations are not limited to rare disease specialists. They provide principles that can support health professionals who encounter people living with rare disease across the health system.
The guidance can inform care across primary, specialist, hospital and other health care settings where people living with rare disease may seek support.
The principles apply to people with a confirmed rare disease diagnosis and people whose health condition remains undiagnosed.
Enablers of good practice
Good rare disease care depends on more than knowledge of a particular diagnosis. The National Recommendations highlight broader ways of working that can help health professionals respond to complexity, uncertainty and the individual needs of people living with rare disease.
Supporting implementation
Rare diseases can involve multiple health professionals, services and systems. People may also bring substantial knowledge of their own condition and experience uncertainty when evidence or specialist expertise is limited.
The Recommendations therefore support ways of working that value partnership, communication, coordination and appropriate information alongside clinical expertise.
In practice
These principles can help guide interactions with people living with rare disease across different professions and health care settings.
Work in partnership with the person living with rare disease and, where appropriate, their family or support people. Recognise their priorities, preferences, experiences and knowledge.
Communicate in ways that are understandable, respectful and responsive to the person’s communication needs. Acknowledge uncertainty when information or evidence is limited.
Rare disease care can involve multiple professionals, services and sectors. Clear roles, information sharing and coordination can reduce fragmentation and the burden placed on individuals and families.
A health professional may not have encountered a particular rare disease before. Good care includes recognising when additional information, specialist advice or other expertise is needed.
Quick reference
A concise one-page resource brings the National Recommendations together in a format that is easy to revisit, share and keep close at hand in everyday practice.
Keep it handy
The quick-reference resource provides an accessible way to revisit the key messages from the National Recommendations without needing to navigate the full document every time.
It can be useful as a prompt for practice, discussion and education, while the full National Recommendations provide the supporting rationale, implementation guidance and indicators of good practice.
Use the concise resource when you want to revisit the Recommendations quickly, introduce them to colleagues or keep the core guidance visible in day-to-day practice.
Use the full National Recommendations when you need the rationale behind the guidance, implementation information and indicators that help describe good practice.
Development & endorsement
The National Recommendations were developed through the Rare Disease Awareness, Education, Support and Training (RArEST) Project and have been endorsed by organisations representing health professionals and the rare disease community across Australia.
Development
Development of the National Recommendations for Rare Disease Health Care was led by the RArEST consortium.
The consortium included the University of New South Wales (UNSW), Rare Voices Australia, University of Western Australia and Macquarie University, with funding from the Australian Government.
RArEST consortium
The National Recommendations were developed through the RArEST consortium and collaboration between its partner organisations.
National endorsement
The National Recommendations have received endorsement from organisations representing rare disease, genetics and genomics, nursing, medicine and other areas of health care.
The National Recommendations are recognised by the Royal Australian College of General Practitioners as an Accepted Clinical Resource.
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