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Predictive testing and clinical trials in Huntington’s disease: An ethical analysis

2018
Sampaio C, Levey J, Klitzman R. Predictive testing and clinical trials in Huntington's disease: An ethical analysis. Movement disorders: official journal of the Movement Disorder Society. 2018 February;33(2):243-247. PubMed PMID: 29205501; PubMed Central PMCID: PMC5854324.

Abstract

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Dilemmas arise concerning how to design studies aimed at preventing or slowing Huntington’s disease (HD) in mutation-positive presymptomatic individuals. HD is an autosomal-dominant neurodegenerative disease. Each child of an HD gene expansion carrier (HDGEC) has a 50% chance of inheriting the mutation, but the clinical symptoms typically only appear in middle age. In the absence of clinical symptoms or having obtained predictive genetic testing, such a person is considered at risk for HD. Although genotyping for the HD mutation approaches 100% accuracy, the decision to undergo predictive genetic testing for a debilitating, stigmatized, and ultimately fatal disease is highly personal. Predictive resting rates in HD are <20% in Europe and only 5%-7% in the United States.