CARRIER TESTING IN FRAGILE X SYNDROME: BIOETHICS

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Investigators and clinicians at the Fragile X Clinic at Duke University Medical Center have observed the variable response to carrier testing of women of diverse ages, as well as the direct impact upon them and upon their immediate and extended families. In a recently completed pilot study of obligate carriers of Fragile X Syndrome, which attempted to ascertain opinions and attitudes regarding carrier testing, 89% of the respondents reported that prior knowledge of carrier status would have changed their reproductive plans. The study also solicited the opinion of respondents as to optimal timing of carrier testing and the optimal age to inform children of the heritable nature of the Fragile X Syndrome. The present study is designed to examine whether (1) the outcome of carrier testing is correlated with changes in self-concept, coping behavior, and family adaptation and support, (2) whether such variables as family adaptation and support, or self concept, can be used to help predict an individual's response to the outcome of carrier testing, and (3) whether women who are at risk differ from obligate carriers in their assessments of optimal age for learning of the heritable nature of Fragile X Syndrome, and for undergoing carrier testing. Specific problems encountered with carrier testing may well be more related to life stages than to chronological age.