These have been recommended by our genetics colleagues, and should be used cautiously given how rapidly the field is changing. If in doubt, please contact your local genetics services.


Many genetic diagnoses are rare and it can take many years for a diagnosis. FindZebra is intended primarily for physicians and other professionals concerned with diagnosis of rare diseases.


M4RD provides education in the Rare Disease field for medical students and doctors in training. Our ultimate aim is to improve the patient-doctor relationship and speed up the journey to diagnosis.


GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.


ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research

Centre for Genetics Education

Thoughtful, detailed and useful genetic information for health professionals from NSW Health, Australia.

Guide to Navigating Paediatric Genomic Testing

An Open Access article published in 2021 that aims to guide paediatricians through the process of genomic testing, and represents the combined expertise of educators, clinical geneticists, paediatricians and genomic pathologists around Australia.