Although cystic fibrosis (CF) is the most common, life threatening autosomal recessive genetic disorder of the white population, there are often delays in diagnosis and hence initiation of treatment. Advances of the past two decades have made CF screening feasible using routinely collected neonatal blood specimens and determining trypsinogen levels and CF mutations by DNA analyses. Our overall goal is to address the following hypothesis: Early diagnosis of CF through neonatal screening will be medically beneficial without major risks.

This study will explore the process by which families at increased risk of adult-onset disease decide to involve their children in research on genetic susceptibility. Through interviews with parents at increased risk for heart disease and breast cancer, their children between the ages of 10 and 17, and the physicians they identify as influential, this study will explore perceptions about the motivations and barriers to participation of children in research on genetic susceptibility to these two diseases.

One of the primary motivations for parents to participate in BRCAI/2 testing is to find out about their minor children's risk of developing cancer. However, parents often report feeling distressed and conflicted about sharing this information with their youngsters once it is available. As few parents receive professional guidance in evaluating the potential risks and benefits of disclosure to children, parents may be prone to make ineffective decisions about communication that could lead to adverse psychosocial outcomes.

Thousands of women have been tested for BRCA1/2 mutations to determine whether they harbor an inherited susceptibility to breast and ovarian cancer. Social and behavioral research conducted with this population suggests that communication of positive test results among mutation carriers to their high-risk family members can be an emotional and difficult task. Though genetic counseling protocols recognize the importance of this behavior to help control the spread of hereditary cancer within the kinship, few patient education resources are available to assist in this process.

Phenylketonuria (PKU) has played a prominent role in the development of modern genetic medicine. Individuals with this rare inherited disease are unable to metabolize phenylalanine, an essential amino acid found in all dietary proteins. In the absence of treatment, ingested phenylalanine and its metabolites accumulate to toxic levels in blood and other tissues, leading to serious neuropsychological abnormalities, including profound mental retardation.