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

Am J Med Genet. 1993 Oct 15;48(3):137-44. doi: 10.1002/ajmg.1320480305.


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/denial-avoidance 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.(ABSTRACT TRUNCATED AT 250 WORDS)

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Attitude to Health*
  • Denial, Psychological
  • Follow-Up Studies
  • Genetic Testing*
  • Humans
  • Huntington Disease / genetics*
  • Huntington Disease / psychology
  • Predictive Value of Tests
  • Prognosis
  • Psychological Tests
  • Risk Factors
  • Social Support