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.

Latest news and advice

MP Visits The Cherwell Hospital

The Cherwell Hospital, was pleased to welcome Sean Woodcock MP, Labour Member of Parliament for Banbury, for a tour of the hospital.

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Duchy Hospital Launches New Imaging Centre

Duchy Hospital in Truro, is proud to announce the opening of its brand-new, purpose-built imaging centre, bringing state-of-the-art diagnostic technology to the region. At the heart of the new facility is a cutting-edge static MRI scanner, designed to deliver faster, more comfortable, and clinically advanced imaging for patients across Cornwall and beyond.

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Duchy Hospital Opens £1.4 million Cardiac Catheter Laboratory

Duchy Hospital in Truro has unveiled its new, state-of-the-art Cardiac Catheter Laboratory (Cath Lab), following a £1.4 million investment aimed at transforming cardiac care across Cornwall and the South West.

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