The goal of this project is to improve the efficacy of screening for Cystic fibrosis (CF) within Region 2, the New York Mid-Atlantic Consortium (NYMAC) for Genetic and Newborn Screening Services, by establishing a regional CF-DNA testing laboratory. Cystic fibrosis is one of the 29 Core Conditions listed in the 2006 American College of Medical Genetics (ACMG) Report, Newborn Screening, Toward a Uniform Screening Panel and System.1 [Newborn Screening: Towards a Uniform Screening Panel and System. Genet Med. 2006;8(5) Suppl: S12-S252.] CF mutational testing has been recommended and implemented in about half of US states. States that have not implemented CF mutational testing, many being mandatory two-specimen states, may be unable to do so because the recent downturn in the economic environment has prevented any further enhancements to their newborn screening (NBS) systems. By providing free access to CF-DNA mutational testing within the region, we will be able to confirm primary IRT testing and reduce false-positive results. Positive predictive values will improve and the need for sweat testing will be minimized within the region. To attain this goal, a vendor will be selected that has a readily available product with a wide range of mutations covering ethnic groups common to the Northeast US, a limited front end expenditure, and processing that will fit into the present NBS workload. States have been queried, and four states in the NYMAC region have the potential to benefit from the services: Delaware, Maryland, New Jersey and Virginia. Three of these states are performing CF testing using an IRT/IRT algorithm and one is performing IRT followed by CF-DNA testing for F508 only. The Delaware Public Health Laboratory (DPHL) will perform method validation, employ a contract molecular biologist, provide laboratory space, develop a timeline, obtain and install necessary equipment, assure training, and develop the workflow and reporting systems necessary to make this project successful. At the same time this project will explore the effectiveness of centralizing this testing in the NYMAC region. PUBLIC HEALTH RELEVANCE: This project addresses "Healthy People 2010" priority area of maternal, infant, and child health to reduce fetal and infant deaths and to ensure appropriate newborn bloodspot screening by widening the scope of availability of cystic fibrosis (CF) mutation analysis to states who presently do not perform this confirmatory testing. This project is relevant to the goals of the New York Mid-Atlantic Consortium (NYMAC) by developing a regional approach to address the maldistribution of genetic resources in the New York-Mid-Atlantic region, which includes Delaware, District of Columbia, Maryland, New Jersey, New York, Pennsylvania, Virginia and West Virginia. All states in NYMAC screen newborn dried blood spots for a panel of genetic and metabolic diseases which includes cystic fibrosis (CF) but about half of the newborn population in this area does not have routine access to CFTR mutation analysis for cystic fibrosis. 1