Metabolics/Genetics Services

Paediatric Metabolic Genetics Brisbane Child Doctor Paediatrics Gold Coast

Metabolic Medicine

A Metabolic Physician cares for children and adults who have inherited metabolic (biochemical) diseases, for example the conditions detected on newborn screening. These are complex conditions and can be life threatening. They can present in complex and various clinical ways.

Clinical Genetics

A Clinical Geneticist is a medical practitioner (either trained initially as a Paediatrician or an Adult Physician) who cares for children and adults with genetic conditions. Empathy and counselling skills are an essential aspect of being a Clinical Geneticist. Common reasons why families may require the assistance of a Clinical Geneticist include:

  • birth defects and congenital malformations

  • antenatal abnormalities detected in the baby

  • chromosome abnormalities

  • developmental delay and intellectual impairment

  • syndrome diagnosis

  • deafness and visual impairments

  • genetic counselling

  • reproductive genetics ie prenatal testing for genetic disease

  • family history of genetic diseases

  • familial cancer syndromes