Clinical genetics

What is clinical genetics?

Clinical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. It also includes genetic counselling for individuals and families with, or at risk of, conditions which may have a genetic basis. 

Genetic disorders include: 

  • Chromosonal abnormalities, which cause birth defects, mental retardation and/or reproductive problems
  • Single gene disorders such as cystic fibrosis, muscular dystrophy, Huntington's disease or sickle cell disease
  • Familial cancer and cancer-prone syndromes, such as inherited breast or colorectal cancer and neurofibromatosis
  • Birth defects with a genetic component, such as neural tube defects and cleft lip and palate

How do we help children who have a genetic disorder?

The Sydney Children's Hospitals Network clinical genetics services include medical assessment, investigation and diagnosis, genetic counselling, management and monitoring of rare disorders and individual and family support services. This is provided by clinical teams which include clinical geneticists, genetic counsellors, genetic social worker and advanced trainees in genetics. The services also have obligations in research, teaching, genetics curriculum development, community education and state and national policy development in medical genetics.

The Network maintains a tertiary referral clinical genetics service at Sydney Children’s Hospital and at The Children’s Hospital at Westmead. Outpatient clinic services include:

  • General genetics
  • Connective Tissue Dysplasia
  • Neurogenetics including Neuromuscular and Neurometabolic 
  • Epidermolysis Bullosa/ Genetic dermatology
  • Cystic fibrosis
  • Genetic eye disorders
  • Craniofacial
  • Cleft palate
  • Hearing support
  • Limb deficiency/ management
  • Cardiac
  • Haematology

At Sydney Children's Hospital the clinical genetics service is part of the South Eastern Sydney Genetics Service, which includes Adult Genetics Services, Prenatal Service (Royal Hospital for Women), St George Hospital Service (Prenatal, Paediatric, Adult), outreach services (ACT, Wollongong) and laboratory services provided by SEALS in cytogenetics, molecular genetics and medical genomics. All staff specialists are academic geneticists by virtue of conjoint appointments with the UNSW schools of Women’s and Children’s Health and the School of Medical Sciences.

At The Children's Hospital at Westmead, the Department of Clinical Genetics is part of the Western Sydney Genetics Program (WSGP), a group of co-located clinical and laboratory genetic services based at Westmead in the Division of Diagnostic Services, consisting of:

  • Clinical genetics
  • Genetic Metabolic Disorders Service — genetic disorders affecting metabolism are served by the metabolic genetics team
  • Biochemical genetics (a laboratory service) 
  • Newborn screening (a laboratory service) 
  • Cytogenetics
  • Molecular genetics