Clinical Geneticist

Clinical Geneticists are physicians who have undergone speciality training in genetics after general professional training in Medicine or Paediatrics (and occasionally other disciplines, such as psychiatry, obstetrics and gynaecology, ophthalmology). The speciality training covers a broad range of sub-specialities such as the genetics of adult and paediatric disorders, cancer, dysmorphology and neuro-psychiatry. Training also includes basic theoretical genetics, counselling theory and practice, laboratory experience and research. Services in Australia are, in general, delivered by metropolitan services with country outreach clinics.

What do clinical geneticists do?
Clinical geneticists see referred patients for diagnosis, management, genetic testing and genetic counselling.
The disorders they investigate are not limited by age group, organ system or sex. Most patients are seen on only one or a few occasions. The process of genetic counselling runs through the work of clinical geneticists and involves the provision of both information and counselling. Information is provided about the features and natural history of the disorder, its genetics, the risk of developing it or passing it on to children, and ways in which the disorder might be prevented or the outcome improved. Counselling involves making that information understandable and useful for decision-making in light of the person’s expectations, beliefs, emotional state and family relationships. Implications for other family members are also considered.