Lessons learned from 30 years of presymptomatic testing in Huntington Disease

Area of Science:

• Neurogenetics
• Predictive Genetic Medicine

Background:

• Presymptomatic testing for Huntington disease (HD) is available but lacks therapeutic prevention.
• Testing is a personal choice, not a medical recommendation, governed by ethical guidelines.

Purpose of the Study:

• To analyze the implementation and outcomes of presymptomatic testing for Huntington disease.
• To highlight the importance of interdisciplinary care and ethical considerations in predictive genetic medicine.

Main Methods:

• Review of presymptomatic testing implementation in France since 1992.
• Analysis of testing uptake, motivations, and psychological support needs.

Main Results:

• Less than 20% of at-risk individuals choose presymptomatic testing for HD, influenced by psychological and familial dynamics.
• Motivations for testing are primarily the desire to know, impacting prenatal testing choices.
• Both favorable and unfavorable results necessitate psychological support due to potential emotional responses like survivor's guilt or prolonged anxiety.

Conclusions:

• Presymptomatic testing for HD offers scientific benefits and a sense of agency for participants in research.
• Interdisciplinary care, genetic counseling, and psychological support are paramount for individuals undergoing predictive genetic testing.
• The principles of presymptomatic testing are vital for advancing genomic medicine, emphasizing individual protection and informed consent.