Medical Genomics / Clinical Genetics


Common reasons for referral to a genetics clinic include a personal or family history of a known or possibly inherited disorder. We see children, adults, and couples during pregnancy if there is a suspected diagnosis or a risk for inheriting an inherited disorder. We see a wide range of genetic conditions such as cystic fibrosis, thalassaemia, Huntington disease, premature heart disease, or chromosome problems. One of our common referral groups are children with learning difficulties or developmental delay where a genetic basis is suspected or confirmed.

What is genetic counselling?

Genetic counselling provides individuals, couples and families with information and support regarding health concerns which are inherited, or suspected as having a genetic cause. Genetic counselling is provided by a team of health professionals to promote informed choices and adaptation to a diagnosis or a risk of inheriting a genetic disorder.

Who is in our team?

Genetic health professionals include clinical geneticists who are doctors with a specialisation in genetic diagnosis and management, and genetic counsellors who are specialised in providing genetic education and support to individuals and families. In addition to this, our team provides access to genetic testing, resources, and research.

For more information about clinical genetics, please access the NSW Health's website for the Centre for Genetics Education: http://www.genetics.edu.au/.