Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians

During the past decade, newborn screening (NBS) for cystic fibrosis (CF) has disseminated worldwide after endorsements by the Centers for Disease Control and Prevention and the CF Foundation. In an ambitious effort to optimize CF NBS for their region's diverse population, California analyzed and planned their strategy over 2 years, leading to specific goals. In essence, California organized a strategy that applied cystic fibrosis transmembrane conductance regulator gene (CFTR) sequencing for the first time, required detection of 2 mutations for designation of positive screening, and recommendation of a sweat chloride test.