Presymptomatic testing for Huntington's disease

JAMA. 1985 Jun 14;253(22):3286-91.

Abstract

Recombinant DNA technology has made possible the identification of a DNA marker for Huntington's disease (HD). In spite of limitations to a presymptomatic test based on this work, and a variety of ethical and policy concerns associated with presymptomatic testing in general, it is likely that such a testing program can and will soon be developed. Its impact needs to be carefully considered by the health care community and policymakers. A presymptomatic test for HD is sought by those at risk and should be made available with proper safeguards to protect confidentiality. Given its potential impact, testing should be offered in a setting that provides diverse and continuing support. Research institutions with a variety of counseling programs, health care professionals, HD lay organizations, and society at large can work together to develop programs that provide the support necessary for responsible, autonomous decision making.

KIE: The identification of a genetic marker linked to Huntington's chorea may soon lead to a generally available presymptomatic test that has a high degree of accuracy. Bird outlines the likely consequences of such genetic screening for potentially affected persons and their families. The desire to know whether one has inherited a fatal defect, versus the psychological stress if such a defect is found, are factors to consider. Foreknowledge of disease may lead to better decision making about life-style or reproduction, but depression or suicide may also result. Counseling should be available to those at risk and to their families; whether to be tested should be an individual decision. Confidentiality of all test results must be maintained.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Bioethics
  • Counseling
  • Decision Making
  • Depression
  • Disclosure
  • Emotions
  • Ethics, Medical
  • Family
  • Genetic Carrier Screening / methods*
  • Genetic Counseling
  • Genetic Markers
  • Humans
  • Huntington Disease / diagnosis*
  • Huntington Disease / genetics
  • Huntington Disease / psychology
  • Personal Autonomy
  • Prenatal Diagnosis
  • Risk
  • Risk Assessment*
  • Suicide

Substances

  • Genetic Markers