In people without symptoms but with a risk of the disease, e.g. an affected parent, a genetic test can be carried out as part of a so-called predictive (or presymptomatic) test, which provides definitive information on whether or not a carrier of HD is present.
Our aim is to provide you with comprehensive neurogenetic counseling to enable you to make an informed and self-determined decision as to whether genetic testing for Huntington’s disease is an option for you personally.
The offer of predictive testing is aimed at people who, due to a family history, are at risk of also being carriers of the gene mutation. No testing is carried out for persons under the age of 18.
We offer consultation hours for people who are already affected by Huntington’s disease.
To the consultation
Procedure for predictive testing
Initial consultation and neurological examination
Your personal situation, the genetic basis of HD and the possible effects of a positive or negative test result will be discussed in detail during an in-depth consultation. The testing procedure, the advantages and disadvantages of testing on a personal, social and professional level and the costs of such an examination are also discussed. A neurological examination may also be carried out with your consent.
As predictive testing has no treatment consequences at the present time, there is no medical indication to perform it. This is a personal decision that should only be made after careful consideration.
If you decide to take the test, a psychological or psychiatric co-assessment is planned in order to record the current psychological situation and individual support needs during and after the test. This is carried out either by our clinic for consultant psychiatry or, particularly if a therapeutic relationship has already been established, by external specialists.
Second consultation
Once the psychiatric or psychological report is available, a second consultation will take place in which your personal decision on testing and any questions you may have will be discussed again. If you stick to your decision, a blood sample will be taken and sent to the genetics laboratory. The result is usually available within 4-8 weeks.
Opening of the result
At this third appointment, you will be informed of the results of the test and any questions you may have will be discussed. Of course, we are also available for follow-up discussions afterwards.
Important: Everyone has the right not to know. It is possible to withdraw from the test at any time or to waive notification of the result.
Preparation for the test
Knowing that you have a serious, untreatable illness can be a life-changing experience with far-reaching effects on your psyche and quality of life. Before the first consultation, it can therefore be helpful to think about your reasons for having a test (e.g. future plans regarding family, career, finances) and the possible consequences of a result for you and your family.
If possible, gather information on family history of Huntington’s disease. Also make a note of any questions you have for us.
Important: carriers without symptoms do not suffer from Huntington’s disease.
Employers may not demand pre-symptomatic genetic tests. You may also not ask for or use test results that are already available. (GUMG, Art. 39) Social insurance, pension funds, daily sickness allowance insurance and endowment insurance up to CHF 400,000 and voluntary disability insurance up to CHF 40,000 annual pension may not collect or utilize pre-symptomatic genetic data. (GUMG Art. 42-44) Only in exceptional cases and under strict conditions is the disclosure of existing test results from pre-symptomatic genetic tests permitted (e.g. in the case of life insurance policies exceeding CHF 400,000). (GUMG, Art. 43) Even then, the insurance company does not receive the direct result, but only the medical classification in a risk group. Nevertheless, it is advisable to think about the possible effects on insurance policies in advance and, if necessary, to take them out before testing.
Costs
Predictive testing is not a mandatory service under the KVG, so the costs of around CHF 330 must generally be borne by the patient.
Prenatal genetic testing
For couples who wish to have children and in whom one partner is affected by HD or is a carrier, testing can be carried out as part of pre-implantation genetic diagnosis in order to prevent transmission to the offspring. However, this is subject to strict legal regulation in accordance with the provisions of the Reproductive Medicine Act and requires comprehensive genetic counseling.