Uptake of presymptomatic predictive testing for Huntington's disease

Abstract

Predictive testing by means of gene probes was offered to 110 adults at risk of Huntington's disease (HD). A further 91 individuals spontaneously sought predictive testing. Acceptance rates were highest (85.1%) amongst 47 individuals who spontaneously sought testing and were referred from outside the region, and lowest (15.5%) among the 110 invited to consider predictive testing. Many expressed an interest in predictive testing, then withdrew. Fetal exclusion testing was rarely requested, and then only by individuals who lacked the necessary pedigree structure for predictive testing for themselves.