These costs are not reimbursed by the research subsidy. The screening process with a clinical geneticist is intended to investigate whether someone is a carrier of the SCA1 error. This process is part of regular care and is therefore completely separate from the SCA1 study. It is important that the choice of whether or not to investigate whether there is a SCA1 error is a well-considered decision, in which the clinical geneticist is trained to explain the advantages and disadvantages of this extensively and carefully. The costs for such a process together amount to more than the mandatory plus the maximum voluntary deductible. The costs that remain after deduction of the deductible are reimbursed by your health insurer. The maximum costs therefore always amount to the mandatory and/or voluntary deductible. The situation is different for people who have already incurred healthcare costs for other reasons, because the personal contribution has already been (partly) used.

It is indeed true that a presymptomatic screening trajectory with the clinical geneticist takes a number of months. This is partly because the result of the DNA test takes a number of weeks and partly because an extensive information trajectory precedes the actual DNA test. There is often a waiting period. However, most University Medical Centers have a shortened waiting period for such a presymptomatic screening trajectory and try to keep the turnaround time as short as possible. It is important that you end up on the correct waiting list with the correct information on the referral letter from your GP. If in doubt, contact the outpatient clinic to which you have been referred. For the SCA1 study, we hope that at least 10 SCA1 carriers without symptoms will register. This number of 10 people is therefore not a maximum number and can be exceeded if more than 10 SCA1 carriers without symptoms register. In addition, it will certainly take months before all participants who have already registered have made an initial visit for the first research day at the Radboudumc. Even if the results of the DNA test by the clinical geneticist are still pending, there is a good chance that you can participate in the SCA1 study. If it turns out that you do not carry the SCA1 error, you can in principle participate as a healthy volunteer. However, we have already received quite a few registrations for healthy volunteers. That is very nice, because we can then select healthy volunteers very precisely who resemble the people with the SCA1 error in terms of age and gender. That is very important for the study. So: register, but it is possible that you will not have to participate in the end.

It can indeed be very confronting if it turns out that there are already mild symptoms of the disease SCA1 visible. This study consists of various measurements and tests that are specifically aimed at measuring motor skills and coordination. There may be a number of tests that are more difficult for you to perform. However, this does not necessarily mean that this is also directly abnormal. Even for healthy volunteers, some tests will be more difficult than others. As researchers, we will not make any statements about the interpretation of the individual results of the tests. However, it may indeed have become clear to someone that there are mild symptoms. You must be well aware of this before you participate. We can always arrange an appointment at the outpatient clinic if you want to discuss this or have it examined. We will also not discuss the results of the MRI scan with you. A radiologist will check whether there is a coincidental finding on the scan and then the scans of the different groups will be compared with each other.