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K07 Predictive Genetic Testing For Huntington´s Disease At University Hospital Of Uppsala
  1. M-L Göller1,
  2. E-L Stattin2
  1. 1University Hospital of Uppsala, 751 85 Uppsala, Sweden
  2. 2Department of Immunology, Genetics and Pathology, University Hospital of Uppsala, 751 85 Uppsala, Sweden


Background Predictive testing for gene mutation that causes Huntington's disease allows people who are at risk to find out if they will develop HD later on. People who want predictive testing usually come to a specialist clinic for several counselling appointments. Predictive testing offers a process following international guidelines as the process is a stressful period for both the risk persons and their relatives. The guidelines are designed to make sure that the people thinking about getting tested have enough information and time to make whatever decision is right for them.

Aim Give the risk persons up-to-date relevant clinical and genetic information so that they can make an informed, voluntary decision. It is important to discuss and carefully weigh the pros and cons before predictive testing. Ensure the patient follow-up support after the test and regardless of the result.

Methods The test procedure includes visits to a doctor for review of the family's medical history and several visits to a psychologist/ genetic counsellor for processing and mental preparation. We do what we can not to speed up the process, but rather encourage the patients to take their time and also securing them the right to cancel the process if desired. The test result is given by the doctor and psychologist together and the tested person is always offered follow-up, individually or by participation in a conversation and support group.

Results and Conclusions Since 2001 we have performed predictive testing of 134 individuals. 66 individuals was found to be carriers, 37 men, 29 women. The conversation and support group started two years ago and has seven members, three men and four women between the age of 28 and 54.

  • genetic testing
  • Huntingon´s Disease.

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