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. 

Metabolic genetic disorders

Genetic disorders of the metabolism are inherited disorders that interfere with cellular metabolic processes. Consequently, they can affect the function of many different organs, often with life-threatening consequences. Diagnosis can be made through careful investigations, and for many of these disorders there are effective treatments.

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: 

  • Chromosomal 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

Biochemical genetics

Biochemical genetics is the investigation of the makeup of tissue and blood samples in order to diagnose genetic disorders and inborn errors of metabolism (IEM) in patients.

The NSW Biochemical Genetics Service, located at The Children's Hospital at Westmead, provides a comprehensive clinical and laboratory service for all paediatric and adult patients in NSW and the ACT who require laboratory diagnosis and treatment of a wide range of inherited disorders of intermediary metabolism and transport. These services are also extended to other states in Australia, when requested, and to neighbouring countries. We seek to provide expertise equal to the highest international standard.


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: