Clinical Resources - Genetic and Rare Disease

Resources for Health Professionals on specific genetic and rare diseases can be found on the websites below.

Information for Health Professionals in Primary Care

HealthPathways – provides general practice teams with information to consistently assess and manage medical conditions, as well as the criteria for requesting health services in Western Australia. Within HealthPathways is a Genetics section (not all yet localised to WA), that has information on:

(You need to register and log in to HealthPathways WA to access these links)**

The information is to provide guidance particularly for general practice teams but is read by other registered health professionals to diagnose and manage patients suffering from a number of different conditions, and contains patient information resources. It is not for access or use by non-registered health professionals or patients. HealthPathways Disclaimer

** Registration is free and available to health professionals, please contact the Western Australia HealthPathways Team who will provide you with a username and password. WA HealthPathways are looking for clinicians to get involved with pathway development, please email the WA HealthPathways Coordinator to join a pathway development team.

Genetics in general practice (2014) – is an article that outlines some of the common genetic issues that arise in general practice clinical consultations, and the clinical scenarios in which general practitioners may suggest genetic testing for patients or referral to one of the various specialist genetics services.

Genetic counselling and testing – The RACGP has published the Guidelines for preventive activities in general practice 9th edition (Red Book) with chapter two providing information on Genetic counselling and testing.

Genetics at a Glance – provides an overview of genetic services with Australia and genetic testing and screening information.

Resources for Specific Rare and Genetic Diseases

Genetics Home Reference – provides information on genetic conditions and the genes or chromosomes associated with those conditions.

The Genetic and Rare Diseases (GARD) Information Center – has many resources for patients and health professionals.

The National Organization for Rare Disorders (NORD) –  The Physician guides for rare diseases are resources for clinicians about specific rare disorders to facilitate the timely diagnosis and treatment of their patients.

RareGUIDELINE  – is a platform for sharing best practices for the management of rare diseases. Guidelines on all aspects of care are included, from diagnostic tests through to treatments and organisation of care.

The EURORDIS InfoHub is a search engine that provides results on rare disease searches from patient organsations who are members of EURORDIS as well as reference websites such as and NIH.

Orphanet –  Orphanet i an online reference portal for information on rare diseases and orphan drugs. It aims to help improve the diagnosis, care and treatment of patients with rare diseases. Emergency guidelines for rare disease are also available.

BMJ Best Practice –  a POC database created by BMJ Evidence Centre. The database is designed to provide clinicians with quickly accessible patient consult information. The database is online only. A subscription (with cost) is required.

Cure CMD (Congenital Muscular Dystrophy) have care guidelines including Congenital Muscular Dystrophy Consensus Guidelines, Congenital Myopathy Consensus Guidelines and British Thoracic Society guideline for respiratory management of children with neuromuscular weakness.


Information on Genetic Services, Testing, Screening and Counselling

Genetic Services of Western Australia (GSWA) is the sole provider of clinical genetic services in Western Australia and offer a multi-disciplinary service that encompasses state-wide diagnostic and counselling services. For further information, refer to GSWA – Information for Health Professionals.

The Centre for Genetics Education – is managed by the New South Wales government and provides up-to-date information about genetics in health. They provide extensive information and education for GPs and other health professionals. This includes information on; Referring to Genetics ServicesGenetics in General PracticeCancerPregnancy and Prenatal Testing, Policies and Clinical GuidelinesLearning Opportunities for Health ProfessionalsNewborn Screening and Pharmacogenomics.

Discussing Direct-to-Consumer Genetic DNA Testing with Patients – A Short Guide for Health Professionals (2013) – provides health professionals with information to assist when patients present with genetic test results that have been obtained from organisations marketing directly to the consumer (known as direct to consumer, or DTC, genetic tests), or when patients wish to discuss the option of purchasing such tests. This guide does not apply to subjects undertaking genetic testing in the context of a research study.

GeneReviews – is a point-of-care resource for clinicians that contains clinically relevant and medically actionable information on the diagnosis, management, and genetic counselling of patients and families with specific inherited conditions.

Condition Specific Red Flags and Pathways

Community Nursing Services – Neurocare Services Pathway

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