Clinical Genetics

What is clinical genetics?

Clinical genetics is a medical speciality that investigates, diagnoses and offers counselling for individuals or families with, or at risk of, conditions that may have a genetic basis. It aims to provide accurate information, genetic testing and genetic counselling support to people affected by, or at risk of a genetic condition.

Conditions a clinical geneticist manages include:

  • chromosomal abnormalities cause birth defects, intellectual disability and/or reproductive problems.
  • single-gene disorders - cystic fibrosis, muscular dystrophy, Huntington's disease and sickle cell disease.
  • familial cancer and cancer-prone syndromes - inherited breast or colorectal cancer and neurofibromatosis.
  • inherited cardiac conditions associated with sudden death
  • birth defects with a genetic component - neural tube defects and cleft lip and palate
  • learning difficulties associated with other problems or family history.

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