Genetic disorders

What are genetic disorders?

Genetic disorders are health or development problems that children inherit from their parents. Many of these conditions are either detected pre-birth or in the early stages of life through the Newborn Screening Service. 

Also see Metabolic genetics services.

Also see Clinical genetics.

How do we help children who have a genetic disorder?

Genetics services were established at both The Children's Hospital at Westmead and Sydney Children's Hospital as part of the NSW Genetics Service in 1998. The services are based at the respective children’s hospitals but they also provide services covering adult and prenatal genetics at both sites. 

Metabolic genetics

Both services provide a tertiary referral Genetic Metabolic Disorders Service.  Metabolic Disorders services identify and manage patients with Inborn Errors of Metabolism (IEM). They also investigate children suspected of having an IEM and provide a state-wide consultative service for physicians managing patients with, or suspected of having, IEM. Currently, our services are managing the care of around 1000 paediatric patients with IEM or genetic disorders.

At Sydney Children's Hospital, the Genetic Metabolic Disorders Service is part of the South East Sydney Genetics Service. At The Children's Hospital at Westmead, the Genetic Metabolic Disorders Service is a separate service within the Western Sydney Genetics Program (WSGP).

Also see Metabolic genetics services.

Clinical genetics

The Sydney Children’s Hospitals Network (maintains a tertiary referral Clinical Genetics service at Sydney Children’s Hospital and The Children’s Hospital at Westmead.

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 (RHW) St George Hospital Service (Prenatal, Paediatric, Adult) Outreach services (ACT, Wollongong) 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, a group of co-located clinical and laboratory genetic services based at The Children's Hospital at Westmead, in the Division of Diagnostic Services.

Also see Clinical genetics.

Western Sydney Genetics Program

The Western Sydney Genetics Program provides a comprehensive and integrated medical genetics service comprising:

Services by hospital