Attitudes toward presymptomatic testing in Huntington disease

Am J Med Genet. 1987 Feb;26(2):271-82. doi: 10.1002/ajmg.1320260205.


One hundred thirty-one individuals at 50% risk of inheriting Huntington disease (HD) responded to a survey to study their attitudes toward taking a genetic test based on the identification of a genetically linked DNA polymorphism. Ninety-six percent of the respondents believe that presymptomatic testing should be available, and 66% say they will use it themselves. Fewer married individuals, in comparison to those single, separated, and divorced, intend to take the test. Many respondents (40%) said their primary reason for wanting to be tested is to end the uncertainty in their lives. Results suggest that there will be self-selection in test use, with many individuals who believe they will be depressed or possibly suicidal with a positive test result deciding not to be tested or unsure about testing. However, 15% of those who want to be tested acknowledge that they may be at risk for suicide if they are probable gene carriers. Only 12% of all respondents say they will be likely to use prenatal testing, suggesting that initial demand may be low in New England. Implementation of presymptomatic testing challenges health care providers to develop strategies to care for otherwise healthy persons who will be given a diagnosis years before the onset of illness.

Publication types

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

MeSH terms

  • Adult
  • Attitude
  • Family Characteristics
  • Female
  • Genetic Counseling
  • Genetic Diseases, Inborn
  • Genetic Linkage
  • Genetic Testing*
  • Humans
  • Huntington Disease / genetics
  • Huntington Disease / psychology*
  • Male
  • Middle Aged
  • Pregnancy
  • Pregnant Women
  • Prenatal Diagnosis
  • Risk
  • Socioeconomic Factors
  • Surveys and Questionnaires