Who is it for?

This service is for anyone who believes that they may be at risk of developing Huntington’s disease. Most of the people who choose to make contact with this service know that there is a positive family history of the disease in their siblings, parent and/or grandparent. It is a service which aims to inform individuals at risk of the disease to understand their options, including whether or not they would like to have genetic testing for the disease.

Who works for the service?

A network of highly trained genetic counsellors is located across the country. Those in Wales will be able to inform people at risk of the disease of the service in Cardiff. If you decide that you would like to make contact with the service then you will receive an appointment to see our Consultant Geneticist (Prof. Angus Clarke) and our Genetic Nurse Counsellor (Ruth Glew). During your first appointment, we would gather information about the disease in your family and your concerns would be discussed. Just because you have attended the clinic does not at all mean you would have to go through with testing - that is something that each person needs to think through for themselves and we would be there to support you in this.

What if I decide to have a predictive test for Huntington’s disease?

Only once you feel all your concerns and anxieties have been addressed should you feel in a position to give informed consent to taking the test. If you decide to proceed, then you will be asked to provide two blood samples taken on different days. From this, the geneticists will screen your sample for presence of the Huntington’s disease genetic mutation. Your results will be given to the Consultant Geneticist and Genetic Nurse Counsellor who will ask to come in to clinic. They will tell you if your result is positive or negative and be on hand to provide you with advice and support.