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.

The proposed International Meeting on Newborn Screening for Cystic Fibrosis is designed to provide current information on neonatal screening for Cystic Fibrosis (CF) to physicians (pediatric pulmonologists, gastroenterologists, pathologists, geneticists), State Health Department laboratory personnel, nutritionists and clinical psychologists. Investigators from the United States and several other countries will be invited to present their clinical and laboratory experience in CF screening.

Women of reproductive age and the partners of those who test positive will be screened for CF mutations by new methods of rapid DNA analysis in this pilot study. The target population includes large numbers of Hispanic and Asian Americans, two groups which have not been studied extensively for either their CF mutation frequencies or their response to testing and counseling.

This study compares two CF carrier screening arrangements: a 'local screen' with pre-screening education provided by a pamphlet and a blood sample drawn by a private physician or public health professional; and a genetic center screen, with pre-screening education by a genetic counselor and a blood sample drawn by a clinic technician. Secondly, this study assesses the effectiveness and cost-effectiveness of a pre-genetic counseling video for CF carrier clients to improve learning in counseling and to increase the utility of counseling information.

This project seeks to delineate problems to be addressed in testing programs in this study of perception of carrier status by CF siblings. By interviewing the adult siblings of CF patients and the CF siblings' spouses, the study will identify factors motivating or interfering with the pursuit of CF carrier testing in siblings, and assess the spouses' level of interest in testing.

The major goal of this study is to determine the feasibility of a CF screening program that, while incorporating pre- and post-test education for people with negative screening tests, provides personal counseling primarily for those who test positive for CF carrier status.

Dr. Asch will be conducting a prescriptive decision analysis for CF screening programs, which will use decision theory and economic techniques to model decision-making about CF carrier testing.