Presymptomatic DNA testing for Huntington disease: Identifying the need for psychological intervention

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Abstract
In the Dutch presymptomatic DNA‐testing program for Huntington disease (HD), 29 individuals with increased risk and 44 with decreased risk were followed‐up 6 months after test results. A prognostic model was built aimed at identifying individuals at risk for psychological maladjustment, as measured by the Impact of Event Scale, the Beck Hopelessness Scale, the General Health Questionnaire, and the Social Support Questionnaire. Results: 1) The more that applicants suffered from intrusive feelings about HD and tried to avoid HD‐related situations, prior to the test, the greater the chance that they will experience this 6 months after the test if they proved to be at increased risk; 2) the more that both individuals with increased risk and those with decreased risk 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 available support, the greater the probability that they will show avoidance behavior after the test; 3) the more pessimistic that individuals with increased risk as well as those with decreased risk were about their future prior to the test, the more they avoided HD‐related situations and the more dissatisfied they were about their available support (pretest), the greater the probability that they will become depressive and suicidal. Psychological adjustment was also studied as a function of a) intrusion/denialavoidance pattern over time and b) healthy mental functioning/future expectancies. Most individuals with increased risk (86%) seem to cope well thus far, although this was based largely on strong psychological defenses and dependent on satisfactory relationships. Five individuals with increased risk (17%) had either health complaints and/or extreme pessimistic expectancies. They were not able to face the consequences of the test result and showed an increase of denial‐avoidance behavior thereafter. Seven out of 9 individuals with decreased risk, identified as possible psychopathological cases with pessimistic expectancies, had less intrusive feelings than prior to the test. This group could later develop severe problems with detachment from their previous life style and also with adapting to their new genetic status. We conclude that DNA‐testing has shown benefits for most tested individuals. However, a considerable number are at risk for maladjustment and should be offered additional help. Further studies as to whether the strong defenses in individuals with increased risk safeguard adequate adjustment in the long term should be undertaken.