The focus of this study is to understand factors influencing family communication and attitudes toward genetic testing. In addition, we are attempting to understand how the mode of inheritance affects individual and family perceptions of risk and thoughts about carrier testing. This study utilized a qualitative approach (interviews) to define the breath of knowledge, beliefs and practices of families (including adolescent girls) related to the inherited disorders present in their family. Parents and adolescent sisters (age 12-17) of individuals with Chronic Granulomatous Disease (both X-linked and autosomal recessive forms - 10 families) were interviewed by telephone. Findings from the study indicate that all girls and parents believed eventual carrier testing was vital because of its relevance to reproductive decision-making and relationship-building, although girls favored carrier testing at a later age than their parents. This study identified fewer numbers of available families than expected and, therefore, we chose to extend the study to the inherited neuromuscular disorders of Duchenne Muscular Dystrophy (X-linked) and Spinal Muscular Atrophy, Type II (Autosomal Recessive) to further study whether differences in family communication, perception of risks and thoughts about carrier testing differ in families with x-linked and autosomal recessive disorders. The inclusion of these groups of disorders will allow sampling of adequate numbers of adolescent girls and their parents to confidently identify differences if they exist. We anticipate completion of this study within the fiscal year.
NIH ExPorter
NIH ExPorter