Juli Bollinger, M.S., at John Hopkins University talks about data she presented at Annual ACMG Clinical Genetics Meeting showing that the majority of patients who tested for Huntington's disease prior to being symptomatic did think that testing for this rare, devastating disease was a good idea.

Huntington’s Disease
Huntington’s disease is a fatal neurodegenerative disease characterized by uncoordinated and uncontrollable movements, cognitive deterioration and behavioral and/or psychological problems. Symptoms usually appear between the ages of 30 to 50, and worsen over a 10 to 25-year period until the patient eventually dies. Chorea is the pronounced symptom of the condition.

Reference
Bollinger J, et al. Returning Incidental Findings in Clinical Sequencing: Opinions of Individuals Tested Presymptomatically for Huntington’s Disease 20-30 Years Ago. Presented at Annual ACMG Clinical Genetics Meeting; Phoenix, AZ; March 21-25, 2017.

свернуть