Genetic Testing & Counselling

People seeking genetic counselling may be newly diagnosed patients, new parents or couples planning a pregnancy, or family members concerned that they too may carry a disorder.

It is possible for family members to be tested to see if they carry the faulty gene. Genetic testing and counselling is available at 23 regional NHS genetic centres throughout the UK. A list of these centres can be found at the British Society for Human Genetics website.

Counsellors work as part of a healthcare team, involving clinical consultants, nursing and primary care teams. Most people are referred through a GP or hospital consultant following a diagnosis.

The first meeting will involve gathering information about the family history and gaining additional diagnostic information if necessary.  Diagnosis is vital for genetic counselling to be effective, and some people may need to be referred to a clinical geneticist for further testing. Once diagnosis is confirmed, the counsellor can ensure that any future sessions meet the patient and/or family's specific needs.

The Genetic Alliance UK website has a series of leaflets explaining about inherited conditions and has one about 'Dominant Inheritance' and a gossary of genetic terms together with a leaflet about possible questions to ask when considering genetic testing. 

 Originally produced by Professor P. A. Farndon, Clinical Geneticist, Jim Costello (deceased) and Margaret Costello.  We are reliant on a team of medical advisors for the clinical content of the website. We are grateful for their continuing support. 
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