Improving Detection of Cystic Fibrosis after Newborn Screening

Introduction

Cystic fibrosis (CF) is the most common life- limiting autosomal recessive disease in the United States. It is a multisystem disease that impacts people of all races and ethnicities. CF is caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR) gene. More than 2,000 variants have been identified, of which 719 have been characterized as causing CF (1, 2). The CFTR protein is an epithelial cell ion channel that is necessary for hydration of epithelial surfaces, including the upper and lower respiratory tract, pancreas, luminal GI tract, liver, reproductive tract, and sweat glands. Historically, CF was diagnosed based on clinical signs and symptoms, including growth failure and/or malabsorption symptoms and recurrent or persistent respiratory symptoms. However, studies of newborn screening (NBS) for CF showed clear health benefits to diagnosis of CF before symptoms developed, with improved growth and survival(3). This led to implementation of CF newborn screening in the US. All states were conducting screening by 2010, and related guide- lines were published in 2017(1, 4). This article will discuss the gaps and health disparities in CF NBS, and actions for primary care providers to take to reduce barriers to better outcomes. Read more here.