The success of genetic linkage studies now permits predictive screening and testing for many hereditary diseases. Both the scientific and social issues have captured public attentiOn. The possibility Of alleviating uncertainty about the future as well as preventing disease occurrence offers hope to families plagued with severe familial disorders. At the same time families fear discriminatiOn in health insurance coverage and the undermining Of identity and Opportunity for themselves and their children. Recent molecular findings now allow presymptomatic genetic testing to determine risks of developing hereditary cancers. The genetic locus, BRCA1, confers a significantly increased risk of breast and ovarian cancer. The psychosocial impact of risk notification on adults in families at high risk for BRCAI is beginning to be studied. To date there are virtually no data about the emotional and psychological effects on the non-tested children of adults undergoing DNA analysis. It is crucial to understand how young people view themselves as members of high risk families and as potential gene carriers in order to determine the psychological and developmental consequences of presymptomatic genetic testing in this population. This information needs to be integrated into the design of safe, effective, and rational genetic testing protocols for families. This pilot project will survey the knowledge, beliefs, and risk perceptions of forty adolescent females regarding breast and ovarian cancer. In addition, their emotional, behavioral, academic and social functioning will be assessed and compared to a matched control group. These subjects will be recruited from a large kindred (K2082) that has been extensively studied at the University of Utah and found to have markers on chromosome 17q tightly linked to the BRCA1 gene. Parents will be undergoing DNA testing for BRCA1 in a parallel study as their non-tested daughters are being evaluated. Genetic counseling will be provided to each adolescent prior to the DNA analysis of the parent. A follow up evaluation will be done 6 months after the parents are notified of their gene status. The findings of this preliminary project will lead to the generation of specific hypotheses to be tested in an intervention study designed to remediate the identified unmet needs in this potentially vulnerable population.
