About Clinical Genetics
Clinical genetics is a rapidly evolving speciality that involves the diagnosis and management of hereditary disorders.
A Clinical Geneticist is a medical doctor specialised in diagnosing and managing patients and families with or at risk of a genetic condition. They help identify and seek to provide a genetic diagnosis by assessing a patients physical features and medical history, analysing family history and inheritance patterns and arranging specialised testing. They provide genetic counselling for individuals or families at risk of conditions with a genetic basis. They help those affected by a genetic disorder to grow and live as normally as possible.
Common genetic conditions
Genetic disorders include:
- Chromosome abnormalities, which cause developmental delay and reproductive problems
- Single gene disorders such as cystic fibrosis, muscular dystrophy, and Huntington’s disease
- Metabolic disorders that can affect growth, development, and function
- Familial cancer and cancer-prone syndromes such as neurofibromatosis
Individuals identified through reproductive genetic carrier screening, and newborn, childhood and pregnancy screening programs also require genetic services.
Testing, diagnosis, and treatment
Each patient undergoes an evaluation tailored to their signs and symptoms. A/Prof Ellaway will establish a differential diagnosis – a shortlist of suspected diagnoses – and a plan for genetic testing. These tests might evaluate:
- Chromosomal disorders
- Inborn errors of metabolism
- Single gene disorders
Once a diagnosis is made, the doctor will work with patients and families to help them understand the diagnosis, and the steps that can be taken to help improve health and life. This may include referral to other specialists to help with ongoing treatment.