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.
Bird SJ. Presymptomatic Testing for Huntington's Disease. JAMA. 1985;253(22):3286-3291. doi:10.1001/jama.1985.03350460086027