Psychological costs and benefits of predictive testing for Huntington's disease

Am J Med Genet. 1994 Sep 15;54(3):174-84. doi: 10.1002/ajmg.1320540304.


The impact of predictive genetic testing for Huntington's disease (HD) was assessed in 68 persons at high (n = 17) or low risk (n = 51) for the disease at one to six years following disclosure of test results. There was consensus in both groups that knowledge of HD genetic status was beneficial. A majority of persons felt relief from wondering and uncertainty. High-risk persons identified greater family closeness and financial security. For low-risk persons, the knowledge that their children were spared offered great consolation. Negative effects in high-risk persons were psychological burden (worry, guilt). Even for low-risk subjects, there was a period of adjustment and, in some, disappointment that low risk had not alleviated problems unrelated to HD. Although the majority of marriages were unaffected by testing, some persons in both groups reported that their marriages sustained positive or negative impact. Despite mixed consequences, most did not regret being tested. The benefits of testing appear to outweigh its drawbacks, at least among this self-selected group of research participants. We also must conclude, however, that predictive genetic testing will result in negative as well as positive consequences, regardless of test outcome.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Female
  • Genetic Testing / psychology*
  • Humans
  • Huntington Disease / genetics*
  • Huntington Disease / psychology*
  • Male
  • Middle Aged
  • Predictive Value of Tests
  • Psychological Tests
  • Risk Assessment*
  • Risk Factors
  • Uncertainty