Presymptomatic testing for late-onset genetic disorders: lessons from Huntington's disease

Abstract

Huntington's disease is an inherited, neurodegenerative disorder, usually of adult onset. Since the identification of linked markers, more than 1000 presymptomatic tests have been performed worldwide and multiple ethical issues have been encountered in relation to informed consent, testing of children, exclusion testing during pregnancy, and confidentiality. Further ethical problems are anticipated after identification of the causal mutation (or mutations). As Huntington's disease is a model for other disorders of adult onset for which testing is becoming possible, the successful resolution of these ethical issues is of great importance. A failure to do so might discredit genetic testing as a whole.