6 Ways To Identify Clinical Clues Of Genetic Conditions


There are clinical clues which could suggest that a family has an inherited susceptibility to a common disease, or that a condition has a strong genetic component.

  1. Some things to consider are:
     Multiple closely related individuals with the same condition, particularly if the condition is rare.
  2. Disorders which occur at an earlier age than usual (especially if onset is early in multiple family members.) Examples include:
    • Breast cancer <45-50 years (premenopausal)
    • Colon cancer <45-50 years
    • Prostate cancer <50-60 years
    • Vision loss <50–60 years
    • Dementia <60 years
    • Young onset cataracts
    • Deafness (congenital or juvenile)
    • Blindness (congenital or juvenile)
  3. Sudden cardiac deaths in people who seemed healthy
  4.  Individual or couple with three or more pregnancy losses (e.g. miscarriages, stillbirths)
  5.  Medical problems in the offspring of parents who are related by blood
  6.  Multiple congenital anomalies or dysmorphic features, particularly if associated with developmental delay.

There is a network of specialist genetic services available to help provide support and advice, please contact the All Wales Medical Genetics Services.