Ethical considerations of genetic presymptomatic testing for Huntington's disease

J Hosp Mark Public Relations. 2009 Jul-Dec;19(2):129-41. doi: 10.1080/15390940903041583.


The aim of this literature review was to determine if there is adequate ethical justification for presymptomatic genetic testing on potential Huntington's disease patients. Huntington's disease is a neurological genetic disorder characterized by midlife onset which consists of cognitive, physical, and emotional deterioration. Although genetic testing has traditionally been guided by the principle of autonomy, severe psychological consequences such as depression, anxiety, survival guilt, and suicide have complicated the ethical issue of providing a presymptomatic yet definitive diagnosis for an incurable disease. An analysis of available articles yielded inconclusive findings, namely due to insufficient evidence, self-selection bias of test participants, or lack of a longitudinal design. Additional results indicated psychological distress is not solely associated with test result, but rather with individual characteristics including, but not limited to, psychological history, test motivation, level of preparation, social support, and age. In the interest of upholding the principles of autonomy, beneficence, nonmaleficence, and justice, it is recommended that medical professionals follow strict protocol, provide extensive counseling, and employ vigilance when assessing at-risk individuals for HD presymptomatic test eligibility to ensure psychological well-being.

MeSH terms

  • Adult
  • Bioethical Issues
  • Female
  • Genetic Testing / ethics*
  • Humans
  • Huntington Disease / diagnosis*
  • Huntington Disease / genetics
  • Infant, Newborn
  • Pregnancy
  • Principle-Based Ethics*