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Newborn Screening for Cystic Fibrosis in California

Description of the Study

The Genetic Disease Branch and the Public Health Institute are conducting a research study to help develop a cystic fibrosis (CF) newborn screening program in California. The purpose of this study is to understand the types of CF genes, also known as mutations, which exist in Californians. Approximately one out of every two babies born in California is Hispanic, and little information on the types of CF mutations in Hispanics is known. A newborn screening program for CF cannot begin without this information.

Phase A

This phase of the project includes the creation of a state-wide CF patient registry, as well as the analysis of immunoreactive trypsin (IRT) levels and CF mutations using existing newborn screening blood specimens from patients born after 1982. California residents of all ages with CF will be identified through multiple existing data sources: CF care providers, Medi-Cal claims records, Office of Statewide Health Planning and Development hospital discharge records, and death certificates.

Patient data already collected by the CF Foundation for its national patient registry and for the International Epidemiologic Study of Cystic Fibrosis will be requested from CF care providers. These existing data will be treated in a confidential manner and will not be released to others in an identifiable format. For patients born in California between 1982 and the present, newborn blood spot specimens, currently in frozen storage, will be accessed and analyzed for CF mutations and level of IRT. This phase alone will not be able to detect a large enough proportion of CF mutations, nor will it have sufficient numbers of Hispanic or African American cases to calculate precise estimates of individual mutation frequencies.

Phase B

Phase B will analyze CF mutations among Hispanic and African American patients of all ages with one or more unidentified mutations remaining after Phase A. Patients born prior to 1982, with one or both CF mutations unknown, will be enrolled and biological specimens for mutation analysis will be obtained. In addition, specimens will be collected in order to perform extensive mutation analysis among children without stored blood spots or for whom one or both mutations on blood spots were not identified. Approximately 200 individuals will be approached for this analysis.

Information on CF mutation will be obtained first through analysis with Genzyme's 87-mutation panel. For patients with remaining unidentified mutations, specimens will be sent for TTGE analysis by Dr. Lee-Jun Wong at Georgetown University. If there are still unidentified mutations, specimens will be sent for DNA sequencing by Dr. Gary Cutting at Johns Hopkins University. This phase is designed to identify at least 90% of the CF mutations in three major population subgroups: Hispanics, Blacks, and non-Hispanic Whites.


CF families throughout the world may ultimately benefit from the knowledge of these mutations. The main goal of this project is to promote healthy lives for those with CF, and to prevent future disease and disability through early detection and proper treatment. Identifying children with CF by newborn screening allows treatments to begin before serious damage occurs. These treatments can delay the onset of the disease, assist families in dealing with the diagnosis and planning of future pregnancies, and offer a better quality of life to children with CF.

The combined data from both project phases will represent the largest analysis of Hispanic CF mutations to date. The information from the analyses will inform the design of a newborn screening program for CF, and could move forward the date of program implementation. The results will also benefit other states in the southwest, such as Arizona and Texas, with similar populations of Hispanics.

Click here to view the California Cystic Fibrosis Mutations List

Last modified on: 11/5/2008 11:32 PM