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. Current policies regarding the timing of genetic testing and when to inform individuals of the genetic nature of a specific health problem have been generalized from only a few disease models. Empiric data will be used to determine if guidelines currently in place regarding the timing and informing of results of DNA carrier testing are appropriate and should be generalized or if policy regarding testing should be individualized to the specific disorder.
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