Guidelines for presymptomatic testing for Huntington's disease: past, present and future in France

Area of Science:

• Neurology
• Genetics
• Medical Ethics

Background:

• Huntington's disease (HD) was the first adult-onset neurological condition with available presymptomatic genetic testing.
• This testing model established a framework for multidisciplinary counseling for individuals at risk.
• The approach represented a significant shift in medical practice regarding genetic information.

Purpose of the Study:

• To review the historical context and evolution of guidelines for presymptomatic genetic testing for HD.
• To share experiences from a French team with over 20 years of practice in HD presymptomatic testing.
• To explore the implications of new French legislation on future testing for untreatable diseases.

Main Methods:

• Historical review of guidelines and clinical practices.
• Analysis of a 20-year experience with presymptomatic testing for Huntington's disease in France.
• Examination of the impact of recent French legislation on genetic testing.

Main Results:

• Presymptomatic genetic testing for HD has served as a foundational model for genetic counseling and testing approaches.
• Extensive experience highlights the importance of multidisciplinary support for at-risk individuals.
• New legislation may influence the future accessibility and practice of presymptomatic testing for untreatable genetic disorders.

Conclusions:

• The framework developed for Huntington's disease presymptomatic testing remains relevant.
• Long-term clinical experience underscores the necessity of comprehensive support systems.
• Future presymptomatic testing, particularly for untreatable conditions, will be shaped by evolving legal and ethical landscapes.