PRESYMPTOMATIC DNA TESTING FOR HUNTINGTON DISEASE - IDENTIFYING THE NEED FOR PSYCHOLOGICAL INTERVENTION

In the Dutch presymptomatic DNA-testing program for Huntington disease (HD), 29 individuals with increased risk and 44 with decreased risk w ere followed-up 6 months after test results. A prognostic model was bu ilt aimed at identifying individuals at risk for psychological maladju stment, as measured by the Impact of Event Scale, the Beck Hopelessnes s Scale, the General Health Questionnaire, and the Social Support Ques tionnaire. Results: 1) The more that applicants suffered from intrusiv e feelings about HD and tried to avoid HD-related situations, prior to the test, the greater the chance that they will experience this 6 mon ths after the test if they proved to be at increased risk; 2) the more that both individuals with increased risk and those with decreased ri sk who suffered from the threat of having HD tried to avoid HD-related situations prior to the test and the less satisfied they were with av ailable support, the greater the probability that they will show avoid ance behavior after the test; 3) the more pessimistic that individuals with increased risk as well as those with decreased risk were about t heir future prior to the test, the more they avoided HD-related situat ions and the more dissatisfied they were about their available support (pretest), the greater the probability that they will become depressi ve and suicidal. Psychological adjustment was also studied as a functi on of a) intrusion/denial-avoidance pattern over time and b) healthy m ental functioning/future expectancies. Most individuals with increased risk (86%) seem to cope well thus far, although this was based largel y on strong psychological defenses and dependent on satisfactory relat ionships. Five individuals with increased risk (17%) had either health complaints and/or extreme pessimistic expectancies. They were not abl e to face the consequences of the test result and showed an increase o f denial-avoidance behavior thereafter. Seven out of 9 individuals wit h decreased risk, identified as possible psychopathological cases with pessimistic expectancies, had less intrusive feelings than prior to t he test. This group could later develop severe problems with detachmen t from their previous life style and also with adapting to their new g enetic status. We conclude that DNA-testing has shown benefits for mos t tested individuals. However, a considerable number are at risk for m aladjustment and should be offered additional help. Further studies as to whether the strong defenses in individuals with increased risk saf eguard adequate adjustment in the long term should be undertaken. (C) 1993 Wiley-Liss, Inc.