Family testing

Family testing

As Gaucher disease is passed down in a family, one person being affected by the disease makes it very likely that other family members will have the faulty gene. It is very important that brothers and sisters of someone with Gaucher disease are tested in case they are also affected. This testing is available in specialist clinics and is sometimes called ‘screening’ or ‘family screening’.

Screening is a helpful way to find out if other family members have Gaucher disease or if they are carriers of the faulty gene. For such screening family members will need to have a simple blood test and answer some questions about their health. Making a ‘family tree’ with the names of your family including grandparents, aunts, uncles and cousins can help doctors to see who may have been affected by Gaucher disease.

This is very important as if family members are found to have Gaucher disease then they may need treatment. If they have a faulty gene but do not have any health problems then doctors can make sure they are regularly checked for any possible problems that may start in the future. If they are found not to have a faulty gene and do not have Gaucher disease then this can bring peace of mind.

This process can be very emotional for family members and should be managed carefully by a trained specialist:

  • explaining how Gaucher disease is passed down through families
  • providing balanced information on genetic testing for Gaucher disease
  • helping to identify family members 'at-risk' of Gaucher disease
  • providing practival and emotional support when a diagnosis of Gaucher disease is confirmed
  • advising on family planning issues relating to Gaucher disease