Appendix 2: Enablers of Good Practice

2.1 The National Strategic Action Plan for Rare Diseases
  • National Strategic Action Plan for Rare Diseases (Australian Government): Outlines a comprehensive, collaborative, and evidence-based approach to achieving the best possible health and wellbeing outcomes for Australians living with rare disease.

2.2 Curated information portals on rare and genetic conditions
  • RARE Portal (Rare Voices Australia): A digital library of verified rare disease information, services, and resources. A living website in ongoing development, with new information added regularly.
  • RARE Helpline (Rare Voices Australia) A free helpline that:
    • Supports people to connect with existing reliable information
    • Provides resources in response to specific needs
    • Helps to increase health literacy and engagement with care and support services
    • Assists in connecting people with existing health services and/or professionals where possible.
  • Rare Disease Australia 101 e-learning module (RArEST and Medics4RareDiseases): A series of short, free, and interactive e-learning modules for health professionals in the Australian context, focusing on person-centred approaches to common challenges for rare diseases. The modules are accredited for Continuing Professional Development by the RACGP.
  • Genetic and Rare Diseases Information Center (GARD) (USA National Institutes of Health): Provides information about rare and genetic diseases, including resources and organisations that help support the needs of children and adults living with rare disease.
  • Orphanet (French National Institute of Health and Medical Research and European Commission): Includes a range of information to improve knowledge on rare diseases, including a high-quality dataset related to rare diseases and orphan drugs.
  • GeneReviews (University of Washington, USA): An international point-of-care resource for clinicians, providing clinically relevant and medically actionable information for inherited conditions in a standardised journal-style format, covering diagnosis, management, and genetic counselling for patients and their families.
  • Centre for Genetics Education (NSW Health): Provides a range of information about genetic conditions, including fact sheets on genetic conditions and online learning programs for health professionals, patients and caregivers.
  • Rare Disease Database (National Organization for Rare Disorders, USA): Information on over 1200 different rare conditions.
  • MedlinePlus Genetics (National Institutes of Health, USA): Includes a database of over 1300 health conditions with a genetic basis.

2.3 Rare disease patient advocacy and support groups and guides
  • A-Z Support Directory (Rare Voices Australia): Links to support groups for a wide range of rare diseases.
  • Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia (Rare Voices Australia): The Guide is for both established rare disease organisations and people interested in setting up an organisation. For existing rare disease organisations, the Guide can be used in several ways to complement the current status, resources, and development phase of an organisation. For those investigating how to establish an organisation, this is an easy to follow resource that covers the key areas to consider. Each section contains information about the topic, links to relevant resources, and a checklist or self-evaluation tool for identifying current strengths and areas for development.
    • Chapter 1: Introduction to Rare Diseases, Rare Voices Australia, the Australian Landscape and the National Strategic Action Plan for Rare Diseases
    • Chapter 2: Rare Disease Organisation Strategy
    • Chapter 3: The Vital Roles of Rare Disease Organisations
    • Chapter 4: Ethical Rare Disease Organisations
    • Chapter 5: Governance Foundations
    • Chapter 6: Funding Your Rare Disease Organisation
    • Chapter 7: Community Engagement
    • Appendices: Assessment Tools and Planning Template.

2.4 Health literacy guides

2.5 Patient partnerships, shared decision making, and respecting diversity
  • Partnering with patients in their own care (Australian Commission on Safety and Quality in Health Care): A guide to effective partnerships with all patients, including key resources and supports to deliver person-centred care.
  • Supportive resources on shared decision making (Australian Commission on Safety and Quality in Health Care): Tools and resources to help consumers and health professionals make shared decisions together.
    • These include resources addressing:
      • “What are my options?”
      • “What are the possible benefits and harms of those options?”
      • “How likely are each of those benefits and harms to happen to me?”
    • Two-minute videos on:
      • What shared decision making is
      • Challenging common myths about shared decision making (such as the time it will take)
      • Patient decision aids that can help in clinical practice.
    • The Supportive resources on shared decision making tools can also be adapted to the rare disease context, for example those recommended by the Australian Commission on Safety and Quality in Health Care.
  • Ask, Share, Know (AskShareKnow): This website provides downloadable point-of-care resources to share with people living with rare disease to facilitate shared decision making using the Ask, Share, Know questions.
  • Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors: This practice resource provides up-to-date recommendations for inclusive communication and family trees (pedigrees) which respect sexual and gender diversity.

2.6a Guides and resources to support making reasonable adjustments for people living with rare disease with intellectual disability
  • Comprehensive Health Assessment Program (CHAP) tool (UniQuest Pty Ltd): A tool for health practitioners (for example, general practitioners or rural generalists) to guide annual health checks for people with intellectual disability. A dedicated Medicare Benefits Schedule (MBS) item (707) is available for these checks.
  • National Roadmap for Improving the Health of People with Intellectual Disability (Australian Government Department of Health and Aged Care): Highlights that best-practice models of care need to be developed that are person-centred, trauma-informed, and enable reasonable adjustments.
  • Reasonable adjustments (Australian Commission on Safety and Quality in Health Care): A suite of resources explaining the legal framework behind reasonable adjustments, practical how-to guides for clinicians, and posters and resources that can be used in clinical settings.
  • GeneEQUAL (NSW Health, UNSW Sydney): Includes an Educational Toolkit developed in partnership with NSW Health and the Centre for Genetics Education explaining how to deliver more inclusive genetic health care. Includes step-by-step guides and resources to help health professionals follow three key principles, namely making reasonable adjustments, and delivering person-centred and trauma-informed care; videos demonstrating how to put those principles into action; and Easy Read booklets on genetics and genomic medicine.
  • Just Include Me (Council for Intellectual Disability): Free online training to help health professionals provide person-centred care.

2.6b Easy Read resources

2.7 Supporting and providing culturally safe health care for Aboriginal and Torres Strait Islander people
  • Lyfe Languages Program (Project Y): A universal medical translator that translates complex medical terminologies into Indigenous languages and includes resources to facilitate culturally appropriate rare disease healthcare, connecting ancient knowledge with new technologies.
  • Rare Disease Resources for the Aboriginal and Torres Strait Islander Community (Rare Voices Australia): A collection of helpful links for Aboriginal and Torres Strait Islander people who live with rare diseases.
  • Cultural Safety for Health Professionals (Australian Indigenous HealthInfoNet): Information and evidence on many aspects of Aboriginal and Torres Strait Islander health and wellbeing, including information to help support health professionals to critically reflect on their practice and learn how to deliver safe, accessible, and responsive health care that is free from racism.
  • Aboriginal and Torres Strait Islander Health Curriculum Framework (Australian Government Department of Health): Details five core competencies for health care professionals providing culturally safe health care.
  • Clinical Yarning e-learning program (Western Australian Centre for Rural Health): A free online program developed to improve the effectiveness of communication of all health clinicians who work with Aboriginal and Torres Strait Islander people.
  • 13Yarn (Australian Government, Lifeline): Culturally appropriate mental health crisis support and referral for Aboriginal and Torres Strait Islander people.
  • Palliative Care and End-of-Life Care (Australian Indigenous Health InfoNet): Guidance for providing palliative and end-of-life care.
  • Indigenous Program of Experience in the Palliative Approach (Program of Experience in the Palliative Approach): Grassroots approach to breaking down barriers to palliative care.
  • Gwandalan (Australian General Practice Accreditation Limited, in partnership with Palliative Care South Australia): Supports palliative care for Aboriginal and Torres Strait Islander communities by providing e-learning modules, webinars, and other resources for frontline staff.

2.8 Supporting people from culturally and linguistically diverse backgrounds

2.9 Supporting people in regional, rural, or remote areas
  • Services Australia Assistance for Isolated Children Scheme (Australian Government): A group of payments for parents and carers of children who are unable to attend a local state school due to geographical isolation, disability, or special needs.
  • Healthdirect rural and remote health (Australian Government Department of Health and Aged Care): A collection of health-related resources for people living in rural and remote areas.
  • Australian College of Rural and Remote Medicine (Australian College of Rural and Remote Medicine): Supports Continuing Professional Development for rural and remote medical practitioners. Information on resources and training is available on their website.
  • Ronald McDonald House Charities (Ronald McDonald House Charities): A home-away-from home for seriously ill children and their families.
  • Royal Flying Doctor Service of Australia (Royal Flying Doctor Service): Offers 24-hour aeromedical emergency services for people living in rural and remote areas in the Australian Capital Territory, New South Wales, Northern Territory, Queensland, South Australia, and Western Australia, as well as primary health services and non-emergency transportation in all states and territories.
  • Angel Flight (Angel Flight Australia): A not-for-profit organisation that coordinates non-emergency flights to assist people living in rural and remote areas to access specialist medical treatment that would otherwise be unavailable because of the distance and high travel costs.
  • Rare Disease Resources for Regional, Rural and Remote Communities (Rare Voices Australia): A collection of helpful links for people who have rare diseases and live in regional, rural, or remote parts of Australia.

2.10a Tools to support recognition of people living with rare and or genetic conditions

2.10b Artificial Intelligence-assisted diagnostic tools
  • Orphanet Clinical Signs and Symptoms App (Orphanet): An online tool that uses clinical signs and/or symptoms entered by the user to search for a rare disease.
  • PubCaseFinder (Database Center for Life Science): A web-based clinical decision support system that uses human phenotype ontology-based phenotypic similarities to provide ranked lists of genetic and rare diseases that represent the most likely differential diagnoses.
  • FindZebra (FindZebra ApS): An online tool to assist with the diagnosis of rare diseases that uses freely available, high quality curated information on rare diseases, and open source information retrieval software.

2.11 Support organisations for people living with an undiagnosed rare disease
  • Syndromes Without a Name (SWAN) Australia: A national organisation providing information, support, connection, and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
  • Wilhelm Foundation: A global organisation aiming to facilitate diagnoses for children and adolescents.

2.12 Undiagnosed disease programs
  • The Australian Undiagnosed Disease Network (UDN-Aus) (Murdoch Children’s Research Institute): A national initiative to support genomic reanalysis and further multiomic research-based testing.
  • Australian Functional Genomics Network (Murdoch Children’s Research Institute): A national collaboration aiming to connect clinicians and researchers to investigate the functional impact of genetic variants in genomic medicine.
  • Undiagnosed Diseases Network International (UDNI): An international network working collaboratively and globally to:
    • Provide diagnoses for patients who have eluded diagnosis by clinical experts
    • Contribute to standards of diagnosis by implementing additional diagnostic tools
    • Foster research into the aetiology and pathogenesis of novel diseases
    • Disseminate those research results broadly and rapidly.
    • Australian members of the UDNI can be found at their website.
  • Undiagnosed Disease Program (Genetic Services of Western Australia): Western Australian program aimed at finding a diagnosis for the undiagnosed.
  • GeneAdd (Sydney Children’s Hospitals Network): A clinical research service at Sydney Children’s Hospitals Network, NSW.
  • Rare Disease Flagship (Murdoch Children’s Research Institute): A clinical research service at the Royal Children’s Hospital and Murdoch Children’s Research Institute, Victoria.

2.13 Educational resources and clinical communities of practice for health professionals on genomics and rare disease
  • Rare Disease Australia 101 e-learning module (Medics4RareDiseases): A series of short, free, and interactive e-learning modules for health professionals in the Australian context, focussing on person-centred approaches to common challenges for rare diseases. Rare Disease 101 is accredited for RACGP Continuing Professional Development (CPD) points and includes:
    • Lesson 1: Introduction to Rare Disease
    • Lesson 2: Understanding the Common Challenges
    • Lesson 3: Mental Health and Wellbeing
    • Lesson 4: Respectful and Effective Communication
    • Lesson 5: The Diagnostic Odyssey and Diagnostic Tools
    • Lesson 6: Genomics 101
    • Lesson 7: Coordinated Care Across the Lifespan
    • Lesson 8: Patient Advocacy Groups
    • Lesson 9: Accessing Research and New Therapies
  • Rare Disease Project ECHO® (Rare Voices Australia, UNSW Sydney, the University of Western Australia and Macquarie University): A free, innovative video conferencing ‘hub-and-spoke’ outreach model connecting community providers or practices to a multidisciplinary team. Accredited for RACGP CPD points.
  • check RACGP CPD Solution (RACGP): Check is an RACGP CPD learning activity that is produced 11 times a year by the RACGP. All cases are written by expert clinicians and reviewed by subject matter experts. Each unit comprises approximately five clinical cases with answers, followed by multiple-choice questions, as well as references and resources. Unit 607 (December 2023) is dedicated to rare disease.
  • HealthPathways (Streamliners): An online tool providing concise point-of-care information on the clinical assessment, management, and referral pathways for a range of conditions. Primarily designed for general practice but can also be used by specialist, allied health, and other health teams in over 40 regions in Australia and New Zealand.
  • Clinical Genomics for Physicians e-learning module (Royal Australasian College of Physicians [RACP]): This resource, which can be found by searching for ‘clinical genomics’ on the RACP website home page, aims to introduce Australasian medical specialists to genomics, help them appropriately discuss genomics with patients and their families, and refer patients for genomic testing.
  • Genomics in General Practice Second (2023) Edition (Royal Australian College of General Practitioners): A suite of concise summaries on various clinical topics in genetics and genomics.
  • Guidelines for Community Involvement in Genomics Research (Australian Genomics): These guidelines for health professionals directly involved in genomics research projects may also be a useful resource for educating people living with rare disease around how they should expect to be included in research.
  • Rare diseases – new approaches to diagnosis and care (Medicine Today): An overview of common challenges for people living with rare disease and clinical resources to implement quality rare disease care in clinical practice.
  • Rare disease management in general practice (HealthEd): Podcast on rare disease care (accredited for RACGP CPD points)
  • Practical Medical Genomics (UNSW Sydney): A short course run at regular intervals providing specialised knowledge and skills to help health professionals confidently integrate genetics and genomics into daily practice.

2.14 Registries and registry-linked resources relevant to rare disease
  • Recommendations for a National Approach to Rare Disease Data: Findings from an Audit of Australian Rare Disease Registries (Rare Voices Australia and Monash University): This report explores the landscape of Australian rare disease registries and databases and includes strategic recommendations and implementation priorities for a national approach to rare disease data collection, co-developed with Rare Voices Australia’s Scientific and Medical Advisory Committee and industry representatives through Rare Voices Australia’s Round Tale of Companies.  
  • RARE Portal (Rare Voices Australia): Contains links to rare disease registries, where available.
  • The Australian Paediatric Surveillance Unit at Kids Research (affiliated with the University of Sydney and the Sydney Children’s Hospitals Network with a close relationship with the Royal Australasian College of Physicians): A national resource to facilitate active surveillance of rare childhood diseases, complications of common diseases, or adverse effects of treatment.
  • Worldwide research on rare paediatric diseases (International Network of Paediatric Surveillance Units): A network of paediatric surveillance units aiming to advance knowledge of uncommon childhood infections and disorders.
  • Australian Congenital Anomalies Monitoring System (Australian Institute of Health and Welfare): Captures data on major congenital anomalies from all Australian states and territories except the Northern Territory.
  • Australian Pregnancy Register for Women on Antiepileptic Medications (The Royal Melbourne Hospital Neuroscience Foundation): An independent, observational register that collects information about pregnant women with epilepsy, treated and untreated, to assist in determining which anti-epileptic medications are safest for the baby while protecting the mother from seizures.

2.15 Rare disease coding

2.16 Clinical trials
  • Information about clinical trials for patients and carers (Australian Clinical Trials Alliance): Includes a consumer involvement pack with information for patients and carers who are considering being involved in health research.
  • Consumer Involvement and Engagement Toolkit (Australian Clinical Trials Alliance): Provides practical advice for researchers and research organisations wishing to conduct patient-centred clinical trials.
  • Australian Clinical Trials (Australian Government Department of Health and Aged Care): Search for clinical trials being run in Australia and New Zealand; search and/or set an alert to be notified when new clinical trials start. The Consumer Guide to Clinical Trials explains what a clinical trial is, some potential benefits and risks, and questions to ask when considering joining a trial. This video from Sydney Children’s Hospitals Network explains how to search for clinical trials on the Australian Clinical Trials website.
  • ClinicalTrials.gov (National Institutes of Health, USA): A comprehensive database of clinical trials in the USA and around the world.

2.17 Advanced therapy medicinal products
  • Kids Advanced Therapeutics (Sydney Children’s Hospitals Network): A program to improve access to advanced therapies (gene therapy, somatic cell therapy, tissue engineering, bacteriophage therapy) for children in Australia.
  • Gene therapy (Healthdirect; Australian Government Department of Health and Aged Care): Brief overview and links to further information about gene therapy.
  • Australia’s Cell and Gene Catalyst (AusBiotech): Overview of the Cell and Gene Catalyst, an initiative aimed at accelerating the development and commercialisation of cell and gene therapies in Australia.
  • Approved Cellular and Gene Therapy Products (Food and Drug Administration, USA): A list of cell and gene therapy products that are licensed for use in the USA.
  • Phage Australia (Phage Australia): A national network of phage researchers and clinician scientists developing phage therapy as a treatment for infectious diseases.
  • The Australian Stem Cell Handbook (National Stem Cell Foundation of Australia, Stem Cells Australia): A publication for patients and carers, with answers to common questions about stem cells, their use in medicine, and their promise for future therapies.
  • Stem cell treatments and regulation – a quick guide for consumers (Australian Government Department of Health and Aged Care): Detailed information about stem cell therapy, including potential risks.
  • Brain Aid (University of NSW and Sydney Children’s Hospitals Network): A suite of co-designed psychoeducational videos and resources about clinical trials and advanced therapy medicinal products.

2.18 Resources to guide discussions about online and overseas research and therapies
  • Buying health products online has risks (Australian Government Department of Health and Aged Care): Advice on buying medicines and medical devices online.
  • Smartraveller (Australian Government Department of Foreign Affairs and Trade): Advice on travel to overseas countries.

2.19 Mental health in people living with rare disease
  • Applying Mental Health First Aid in a Rare Disease Context (Rare Voices Australia): Developed in consultation with people living with rare disease for those working with the rare disease community to complement Mental Health First Aid Training.
  • Living with a rare disease: Digital mental health resources (RArEST Project): A fact sheet with digital mental health information for people living with rare disease.
  • Rare Disease Project ECHO® (Rare Voices Australia, UNSW Sydney, the University of Western Australia and Macquarie University): In the Mental Health and Wellbeing session, Louise Healy from Rare Voices Australia talks about supporting the mental health and wellbeing of people living with rare disease. A summary of key learnings from the session is available.
  • Head to Health (Australian Government Department of Health and Aged Care): Information about mental health and wellbeing, including digital resources, resources for building coping skills, and pathways for accessing mental health professional support.
  • Kids Helpline (Australian Government): A free 24/7, confidential and private counselling service for children and young people aged 5 to 25 years. Counselling and support is provided via the phone, web and email.
  • 13Yarn (Australian Government, Lifeline): Culturally appropriate mental health crisis support and referral for Aboriginal and Torres Strait Islander people.
  • Intellectual Disability Mental Health Connect (Department of Developmental Disability Neuropsychiatry (3DN), UNSW Sydney, and the Council for Intellectual Disability): Aims to help people with intellectual disability get the right services and support for their mental health. It has information for people with intellectual disability, their supporters, and professionals. The website is aimed at people who live in New South Wales. However, people who do not live in New South Wales may still be able to use the information.
  • Embrace Multicultural Mental Health (Mental Health Australia): Mental health resources and information for people from culturally and linguistically diverse backgrounds.

2.20 Resources for carers and family members
  • Disability Support Information (Rare Voices Australia): A guide to existing disability, aged care, and carers supports and services.
  • Carer Gateway website and call centre (Australian Government Department of Social Services): An entry point for carers to access practical information and advice, online supports, and services in their local area.
  • Siblings Australia (Siblings Australia): A not-for-profit Australian organisation providing resources to support siblings of children and adults with disability.

2.21 Strengths-based and trauma-informed care

  • Strengths-based approach: Practice Framework and Practice Handbook (Department of Health and Social Care, United Kingdom): Detailed guidance on strengths-based social work with adults, individuals, families, and communities.
  • Strengths-based Nursing and Healthcare (Ingram School of Nursing, Canada): This is a framework for health professionals to consider in the delivery of health care. It includes four foundational pillars and eight values and aims to help transform a depersonalised and fragmented health care system into a personal and collaborative model that fosters opportunities for self-healing, engenders hope, and enables patients to draw upon their strengths even in the most difficult circumstances.
  • What is Trauma-Informed Care? (Trauma-Informed Care Implementation Resource Center, USA): Website with videos and guidance on implementing trauma-informed care.

2.22 Resources to support information sharing between clinical teams and people living with rare disease
  • My Health Record (Australian Government; Australian Digital Health Agency): A safe and secure place to keep key health information.
  • HealthLink (HealthLink Group Limited): Enables the secure electronic delivery of pathology and radiology results, referrals, clinical documents, and discharge summaries between health care professionals.
  • My Health Matters folder (Council for Intellectual Disability): A communications folder for people with intellectual disability.
  • The A2D (Admission to Discharge; South Eastern Sydney Local Health District): Folder for people with challenges with verbal communication.
  • Julian’s Key (Queensland Health): A hospital passport for people with intellectual disability.
  • The Hospital Passport (Developmental Disability Western Australia): A health care passport for people with neurodevelopmental conditions.

2.23 Care coordination services

Paediatric hospitals

Adult hospitals

  • Chronic disease GP Management Plans and Team Care arrangements (Australian Government, Services Australia): A guide for medical practitioners about supporting patients needing chronic disease management, including appropriate Medicare item numbers.
  • Support coordinators (NDIS): A guide to the different levels of support coordination that may be available under the NDIS including Level 3: Specialist support coordination. This level is for people with more complex situations that require a higher level of support. A specialist support coordinator can assist people to manage challenges in their support environment and ensure a consistent delivery of service.
  • Complex Needs Coordination Team (CoNeCT) (Government of Western Australia): Supports patients who are identified by hospital staff as being at risk of further hospitalisation.

2.24 Transition care services

New South Wales

  • NSW Transition Care Network Service (NSW Health Agency for Clinical Innovation): A New South Wales service offering practical help for young people with chronic health conditions transitioning to adult services.
  • Examples of services (NSW Health Agency for Clinical Innovation): List of transition clinics and services available in New South Wales to support young people, their families, and carers through transition.
  • Trapeze (Sydney Children’s Hospitals Network): Transition from paediatric to adult health for young patients with chronic conditions.

Western Australia

Victoria

  • Transition Support Service (Royal Children’s Hospital in Melbourne, Victoria): Assists young people with chronic medical conditions and/or disabilities and their parents and carers to transition and transfer to adult care from the age of 15 onwards.
  • The Royal Melbourne Hospital Young Adults Transition Service (Royal Melbourne Hospital, Victoria): Provides specialist consultation to adults with congenital disabilities who require ongoing monitoring and care with regards to their physical wellbeing.

Queensland

  • Nurse Navigator Service (Queensland Health): Helps families of children with complex conditions navigate services across the health care system, including related to transition.

2.25 Transition care resources
  • Transition Care Network (NSW Health Agency for Clinical Innovation): Key principles and resources to support successful transition from paediatric to adult services in New South Wales and the Australian Capital Territory.
  • Healthy WA: My Health in My Hands (WA Health): A three-minute animation aimed at young people residing in Western Australia aged 12 to 18 years to provide support as they become more independent with their health care. Includes a transition readiness checklist for young people and a transition readiness checklist for parents and carers of young people.

2.26 Palliative care resources and services

Palliative care: general

Palliative care: Aboriginal and Torres Strait Islander people

  • Palliative Care and End-of-Life Care (Australian Indigenous Health InfoNet): Guidance for providing person-centred care.
  • Indigenous Program of Experience in the Palliative Approach (Program of Experience in the Palliative Approach): Grassroots approach to breaking down barriers to palliative care.
  • Gwandalan (Australian General Practice Accreditation Limited, in partnership with Palliative Care South Australia): Supports palliative care for Aboriginal and Torres Strait Islander communities by providing e-learning modules, webinars, and other resources for frontline staff.

Palliative care: people with intellectual disability

Palliative care: people with culturally and linguistically diverse backgrounds


2.27 Resources related to antenatal care and pregnancy planning

2.28 Newborn screening and early infantile checks
  • Newborn bloodspot screening (Australian Government Department of Health and Aged Care): Information about newborn bloodspot screening.
  • Newborn hearing test (Australian Government Department of Health and Aged Care): All Australian states and territories offer a type of hearing screening (using either an automated auditory brainstem response or transient evoked otoacoustic emissions).
  • Routine health checks for babies and children (Healthdirect, Australian Government Department of Health and Aged Care): These checks can detect early signs of a rare disease, as well as other health and developmental conditions. Health checks are recommended at 1 month, 18 months, 2 years, 3 years, and 4 years of age (or before school commencement).

2.29 Immunisation guidelines
  • Australian Immunisation Handbook (Australian Government Department of Health and Aged Care): The Australian Immunisation Handbook provides clinical guidelines for health care professionals and others about the safest and most effective use of vaccines in their practice.

2.30 Environmental and rare cancer resources
  • EviQ guidelines (Cancer Institute NSW): Guidelines that can help guide risk assessment and referral for rare cancers, as well as plain English fact sheets for families.
  • Rare Cancers Australia (Rare Cancers Australia): A not-for-profit organisation aiming to improve awareness, support, and treatment of Australians with rare and less common cancers.
  • Asbestos support and advocacy groups (Australian Government Asbestos Safety and Eradication Agency): Listing of non-government organisations providing asbestos support and advocacy.

2.31 Reproductive carrier screening, genomic and genetic testing

2.32 Continuing professional development-enabling audits
  • CPD at the RACGP: List of activities suitable for CPD points, including a guide to clinical audits.