The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.
Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique.
Hospital admissions and visits to emergency departments are common for people living with a rare disease who may present with life-threatening symptoms. There is an urgent need for emergency management guidelines for individual rare diseases. In the absence of these guidelines, it is vital for emergency departments to stay alert and respond swiftly to people presenting with a rare disease, or an undiagnosed rare disease.
Rare diseases are often complex, serious, chronic and progressive conditions with few treatment options, posing a variety of challenges to Australian healthcare and disability systems. With rare diseases affecting an estimated 2 million Australians1 and the number of known rare diseases increasing thanks to advances in technology, most healthcare professionals will meet at least one rare disease patient at some point in their careers.
People living with a rare disease often become experts in their own rare disease; they may know more about their condition than some healthcare professionals. This can leave patients and families concerned that healthcare professionals have insufficient understanding of their condition to provide adequate care. Therefore, it is important for healthcare professionals to recognise and embrace the knowledge and expertise of rare disease patients, families and carers, and to provide gentle, respectful direction where patients have been misinformed.
It is impossible for healthcare professionals to know everything about over 7,000 known rare diseases, but it is vital they stay updated with available rare disease information and resources to support patients and their families from diagnosis through to treatment, care and support.
The information on this page is intended as a guide only. If you are aware of any additional information that may benefit stakeholders with an interest in this page or another page on the RARE Portal, or if you notice any broken links or misleading information, please let us know via the Contribute page.
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Policy | Supporting People Living With a Rare Disease | Supporting People Living With an Undiagnosed Rare Disease | Diagnostics | Treatments | Guides and Resources | Education | Research | Other Information | References
Launched in 2020 by the Australian Government, the National Strategic Action Plan for Rare Diseases (the Action Plan) is the first nationally coordinated effort to address rare diseases in Australia. Due to the great complexity, significant unmet need and critical urgency associated with rare diseases, systemic reform is required. The Action Plan represents the views of the rare disease sector and outlines a comprehensive, collaborative and evidence-based approach to achieving the best possible health and wellbeing outcomes for Australians living with a rare disease.
There are also a range of relevant policies and reports driving change in rare disease care in Australia, which may directly affect the way healthcare professionals work, both now and into the future. Some of these are listed below.
- National Strategic Action Plan for Rare Diseases
- The New Frontier – Delivering better health for all Australians
- National Aboriginal and Torres Strait Islander Health Plan 2013-2023
- Newborn Bloodspot Screening – National Policy Framework
- Australian Government Department of Health and Aged Care – What we’re doing about rare diseases
- National Medicines Policy
- Rare disease legislations – Maeve’s Law
- Cell and Gene Therapies: Rising to the Challenge
- National Clinical Trials Governance Framework and user guide
- National Health Genomics Policy Framework
- National Approach to Genomic Information Management (NAGIM) Blueprint
- Human Genetics Society of Australasia (HGSA) Policies and Position Statements
- Australia’s Disability Strategy 2021–2031
- Disability & Rare Disease: Towards Person Centred Care for People with Rare Diseases
- Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia
- National Digital Health Strategy and Framework for Action
- National Mental Health and Suicide Prevention Plan
- National Safety and Quality Digital Mental Health Standards
- National Palliative Care Strategy
Supporting People Living With a Rare Disease
Australians living with a rare disease often face delays in diagnosis, and inequitable access to appropriate treatments and early interventions. Most rare diseases have no cure, so improving quality of life and extending life expectancy are core to care delivery.1
Compounding the inherent complexities of a rare disease diagnosis are healthcare and disability systems that are not fully equipped to respond to rare diseases effectively and holistically. Stakeholders across the rare disease sector are advocating for systemic change, including progress towards a national rare disease workforce strategy. However, until these systems and policies are embedded across Australian health and disability systems, people living with a rare disease rely on the dedication of their healthcare professionals, and the support of systems built to respond to more common conditions.
Rare disease impinges on all facets of life, and the effects are felt by patients, parents, grandparents, siblings and carers. Feelings of stigma, including isolation and discrimination, as well as anxiety and grief can consume parents and carers as they navigate an uncertain future for a child living with a rare disease. There are ongoing psychosocial and financial pressures that must also be acknowledged and holistically managed.2 The RARE Portal’s National, State and Territory-based services pages are a starting point for healthcare professionals and people living with a rare disease to locate appropriate support and information.
If you suspect your patient has a rare disease and would like to link them with an existing Australian support organisation, please visit the Support Directory. Please note some conditions may be supported by umbrella groups. For more information about a specific rare disease, please visit and direct patients and carers to the A-Z list of rare disease information on the RARE Portal. If you do not find the rare disease you are looking for, please visit Genetic and Rare Diseases (GARD) Information Centre for more information, keeping in mind that information on GARD is based on the American healthcare system.
If you diagnose a child with a rare disease, you can report this to the Australian Paediatric Surveillance Unit at Kids Research and the International Network of Paediatric Surveillance Units.
Other resources include:
- Lyfe Languages – a health initiative that enables translation of complex medical terminology into Indigenous languages
- Clinical Yarning – provides information and links to resources dedicated to improving communication between healthcare clinicians and Aboriginal and Torres Strait Islander People using a clinical yarning approach
- Wellmob – resources for frontline health and wellbeing workers, focussing on the social, emotional and cultural wellbeing for Aboriginal and Torres Strait Islander People
Supporting People Living With an Undiagnosed Rare Disease
Supporting Australians living with an undiagnosed rare disease can be challenging but is vital. It requires the combined expertise of a range of healthcare professionals, including clinicians, nurses allied health and mental health. Living with an undiagnosed disease is laden with uncertainty, and patients and caregivers can feel peripheral to the decision-making process. Without a diagnosis it is difficult to provide an accurate prognosis, access to evidence-based treatments or access to funding for health and disability services. Therefore, it is important for healthcare professionals to work together and in partnership with patients, families and carers to support and manage the care of people living with an undiagnosed rare disease.
Thanks to advancing technologies, new rare diseases are being discovered all the time. Ongoing management of a person with a suspected undiagnosed rare disease can aid diagnosis and reassure patients and caregivers with hope for a future diagnosis. Healthcare professionals can also provide information and support about opportunities to participate in research to foster hope for a future diagnosis and better outcomes for people living with undiagnosed rare diseases. The Australian Undiagnosed Diseases Network (UDN-Aus) aims to provide a definitive diagnosis for people with complex and long-standing or ‘orphaned’ medical conditions.
Genetic Alliance Australia (GAA), Genetic Support Network of Victoria (GSNV) and Syndromes Without a Name (SWAN) Australia may be able to provide some support for families and individuals affected by an undiagnosed or rare genetic condition for which there is no disease specific support group.
An overlapping spectrum of complex and unusual symptoms can make diagnosing rare diseases difficult. Receiving timely and accurate diagnosis enables the best clinical care, treatment options, access to services, increased reproductive confidence and access to participation in clinical trials. Yet diagnostic delay and misdiagnosis are common in rare diseases. Currently, Australians adults and children can wait several years for an accurate diagnosis causing physical, psychological, emotional and financial loss. 3 Therefore, it is important that healthcare professionals are open to searching for answers when faced with a range of unexplainable symptoms or episodes.
The use of a simple mnemonic—Family GENES—may be useful for prompting clinicians to consider a rare genetic disease diagnosis.4,5 Family GENES provides a list of red flags for rare disease outlined in the figure below.
In Australia there are national health screening programs, including preconception carrier screening, which are vital to the early detection of rare diseases. These programs aim to reduce the burden of illness and improve health outcomes for individuals and their families.
Access to freely available online health information means many people living with a rare disease are aware of diagnostic tests and treatments available internationally. However, not all available diagnostic tests or treatments for rare diseases are approved or subsidised in Australia. That means Australian healthcare professionals may be faced with difficult questions from knowledgeable patients and caregivers around access to testing, so it is important to be prepared to respond. Below are some links to Australian screening programs, diagnostic tools and information, as well as a link to the Medicare Benefits Scheme, which has a list of subsidised diagnostic tests.
- Newborn Bloodspot Screening (NBS)
- Australian Government list of conditions screened via NBS – conditions screened by jurisdiction
- Reproductive Carrier Genetic Screening – Mackenzie’s Mission – a research study investigating the best way to deliver a national reproductive genetic carrier screening program available to all couples in Australia
- RACGP – Beware the Rare : Carrier screening
- Medicare Benefits Schedule – a listing of the Medicare services subsidised by the Australian Government
- Melbourne Genomics Health Alliance: Genomic testing for paediatricians
- National Health and Medical Research Council (NHMRC): Medical Genetic Testing – information for health professionals
- National Model of Consent for Clinical Genomic Testing
- Australian Undiagnosed Diseases Network (UDN-Aus)
- FaceMatch – state-of the-art computer face-matching technology to match the faces of children with syndromic intellectual disability who are undiagnosed (for clinicians, researchers and people living with an undiagnosed rare disease
- Cliniface – a free clinical platform for 3D facial analysis (for clinicians and researchers)
- FindZebra – tool for helping diagnosis of rare diseases, intended primarily for physicians and other professionals concerned with diagnosis of rare diseases
Most rare diseases have no cure, so health systems focus on improving quality of life and extending the life expectancy of people living with a rare disease. With limited treatment options, it is essential for people living with a rare disease to benefit from new and transformative health technologies such as genomics, gene and cell therapies and precision medicine. Timely access to these transformative technologies is critical as many rare diseases progress quickly. There are several programs and initiatives supporting the treatment and management of rare diseases in Australia listed at the Australian Government Department of Health – What we’re doing about rare diseases. The Australian Government Department of Health subsidises treatments for a number of rare diseases through a range of programs and mechanisms.
- Therapeutic Goods Administration (TGA) – Australia’s regulatory authority for therapeutic goods
- Pharmaceutical Benefits Scheme (PBS) – lists all of the medicines available to be dispensed to people at a government-subsidised price
- Medicare Benefits Schedule (MBS) Online – a listing of the Medicare services subsidised by the Australian Government
- Life Saving Drugs Program (LSDP) – pays for specific essential medicines to treat people with rare and life-threatening diseases
Guides And Resources
This section provides a list of useful links to health and disability information for various healthcare professionals.
For all Healthcare Professionals
- National Disability Insurance Scheme (NDIS) – funding for various types of support for Australians with a disability based on individual needs
- My Aged Care – information, assessments, referrals and support for aged 65 years or over (50 or over for Aboriginal or Torres Strait Islander people) to access Australian Government-funded aged care services
- digitalhealth.gov.au for healthcare providers – searchable digital resources for healthcare providers, including My Health Record, Telehealth and digital prescribing
- Project ECHO (Children’s Hospital Queensland Hospital and Health Service) – virtual knowledge database sharing model for healthcare professionals supporting children and young people
- NSW Government Agency for Clinical Innovation (ACI): Transition Care Network resources
- NSW Government Agency for Clinical Innovation (ACI): Say Less Show More initiative – visual tools for healthcare professionals to support children including those with disabilities and their parents and carers to participate in medical procedures
- NSW Government Cancer Institute NSW: eviQ Cancer Treatments Online – evidence-based, consensus driven cancer treatment protocols and information for use at the point of care
- GeneReviews – international point-of-care resource with clinically relevant and actionable information for inherited conditions
- Online Mendelian Inheritance in Man (OMIM)
- Human Disease Genes
- Human Genetics Society of Australasia (HGSA) – forum of the various disciplines represented under the title of Human Genetics
- Australian Ethical Health Alliance – ethical principles for safe and effective healthcare and ethical collaboration across the healthcare sector
Palliative Care Resources:
- Paediatric Palliative Care National Action Plan Project
- Palliative Care Australia: Resources for Healthcare Professionals
- Program of Experience in the Palliative Care Approach (PEPA) – national palliative care project aimed to enhance the capacity of health professionals in delivering palliative care
For Allied Health Professionals
- Through the Unexpected – compiled list of guidelines for professionals as well as resources on providing support upon prenatal diagnosis
- Chronic disease GP Management Plans and Team Care Arrangements – information for doctors about managing people with chronic diseases
- Australian Genomics: Plain language genomic test report templates – to assist with communicating genomic test results for rare diseases to patients and families
- Australian Government – Better Access Initiative (mental health care plans)
- Victorian Clinical Genetics Service information for health professionals on genomic sequencing
- Royal Australasian College of Physicians (RACP)
For Mental Health Professionals
- Life in Mind – National gateway connecting Australian suicide prevention services
- Mental Health Professionals’ Network
- General Mental Health Standards Collaboration
- Accessible Mental Health Services for People with an Intellectual Disability (Guide for Providers)
For Diagnostic Specialists
- Australian Society of Cytology
- Royal College of Pathologist of Australasia (RCPA): Genetic testing resources for pathologists, scientists and doctors
Rapid advances in technology and rare disease knowledge demand a continuous commitment to education for all rare disease stakeholders. This is even more pertinent for healthcare professionals looking after people living with a rare disease, who require a nuanced approach to care that is person-centred with a focus on actively listening to patient and caregiver narratives.
Research into the learning needs of Australian healthcare professionals around rare disease is ongoing. Rare disease specific education and resources for healthcare professionals are under development and will be added to the RARE Portal, in time. Below is a useful list of genomics and rare disease education and resources currently available.
- Medics 4 Rare Diseases (M4RD): Rare Diseases 101 – Australia – online training modules for medical professionals supporting people living with a rare disease
- Rare Disease Project ECHO® – a community of clinical learning practice to increase awareness of rare diseases and provide health professionals with multidisciplinary peer learning and evidence-based, clinically informed expert support to deliver contemporary best practice health care nationally. Topics include mental health and wellbeing, communication, diagnostic odyssey, genomics, whole of life care, partnering with patient advocacy groups and research.
- The Rare Diseases University – Sanofi-sponsored online, interactive educational platform designed for healthcare professionals around the world; focused on furthering scientific understanding and sharing best clinical practice on rare diseases
- The GeneEQUAL Educational Toolkit: Communicating with People who have Intellectual Disability – designed to support health care professionals make reasonable adjustments to ensure that patients with intellectual disability receive inclusive, person-centred and respectful care (in alignment with NSW Health policy).
- Intellectual Disability E-Learning Resource for Disability Professionals – Department of Developmental Disability Neuropsychiatry (3DN)
- Learn from people living with a rare disease – personal stories shared with Rare Voices Australia
- SING Australia – Summer Internship for Indigenous peoples in Genomics
- NSW Government Health Education & Training (HETI)
- NSW Centre for Genetics Education (a division of HETI)
- Melbourne Genomics Health Alliance
- Australian Commission on Safety and Quality in Health Care – Supportive resources on health literacy
- Australian Government Therapeutic Goods Administration (TGA): Information and Education for Healthcare Professionals
Supporting people living with a rare disease extends beyond healthcare into empowering them to participate in research for new treatments and increased knowledge. For many people living with a rare disease, participation in a clinical trial may be the only way to access treatment. 1 Healthcare professionals are the gatekeepers to research and clinical trials for people living with a rare disease. Healthcare professionals’ involvement in, and awareness of, research and clinical trials opportunities are fundamental to best practice care for people living with a rare disease. It is also vital for healthcare professionals to help manage expectations of patients and caregivers wanting to participate in a clinical trial.
For key decision-makers at all levels, greater knowledge of rare diseases can facilitate more responsive and appropriate services for people living with a rare disease and their families and carers. Below are links to various research opportunities and initiatives. For more information about rare disease research, please visit the Researchers page on this RARE Portal.
- Australian Clinical Trials – searchable database of the Australian New Zealand Clinical Trials Registry
- Clinicaltrials.gov – database of privately and publicly funded clinical studies conducted around the world
- Rare Disease Registry Alliance Members
- RVA Research Partnerships page
- RD-CODE Project and ORPHAcodes – unique, time-stable and non-reusable numerical identifiers for rare diseases
Other links to information that may be of interest:
- Rare Care Centre – Clinical Centre of Expertise for Rare and Undiagnosed Diseases at Perth Children’s Hospital in Western Australia
- Australian Association of Developmental Disability Medicine (AADDM) – an organisation of medical practitioners, allied health practitioners and others who specialise or have an interest in improving the health and function of Australians with intellectual and developmental disability
- Genetic and Rare Diseases (GARD) Information Centre
- Orphanet search engine – search by clinical signs and symptoms
- Human Phenotype Ontology (HPO)
- Rare Diseases International
- International Rare Diseases Research Consortium (IRDiRC)
- National Organization for Rare Diseases (NORD)
- Canadian Organization for Rare Diseases (CORD)
- Genetic Alliance UK
- EURORDIS – Rare Diseases Europe
- European Reference Networks
- Commonwealth of Australia. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available From: https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf
- Anderson M, Elliot EJ, Zurynski YA. Australian families living with rare disease: Experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis. [Internet]. 2013;8:22. Available from: https://doi.org/10.1186/1750-1172-8-22
- Bhattacharya K, Millis N, Jaffe A, Zurynski YA. Rare disease research and policy in Australia: One the journey to equitable care. [Internet]. 2021;57(6):778–81. Available from: https://doi.org/10.1111/jpc.15507
- Whelan AJ, Ball S, Best L, Best RG, Echiverri SC, Ganschow P et al. Genetic red flags: clues to thinking genetically in primary care practice. Prim. Care Clin. Office Pract. 2004; 31:497-508.
- Baynam, G. A diagnostic odyssey – red flags in the red sand. Medicus. 2015;55(9):40-43.
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