Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve...

Area of Science:

• Neurogenetics
• Clinical Genetics

Background:

• Huntington's disease (HD) is caused by a repeat expansion identified in 1993.
• CAG repeat length is the primary determinant of HD age at onset.
• Advances in identifying genetic modifiers of age at onset have been made.

Purpose of the Study:

• To review the current state of genetic testing for Huntington's disease.
• To consider the personal impact of pre-symptomatic genetic testing.
• To discuss the clinical application of genetic data for onset prediction and trial stratification.

Main Methods:

• Review of current genetic testing practices for Huntington's disease.
• Analysis of the impact of pre-symptomatic genetic testing.
• Discussion of genetic modifiers and their potential clinical applications.

Main Results:

• Genetic testing for Huntington's disease is established.
• Genetic modifiers of age at onset are being identified.
• The potential exists to improve clinical practice and trial design using genetic data.

Conclusions:

• Genetic data holds promise for improving Huntington's disease clinical practice.
• Recommendations are proposed for the short, medium, and long-term use of genetic data.
• Enhanced use of genetic information can benefit clinical trials and patient care.