Dr. Denise Kay, Director of the New York State Newborn Screening Program at the Wadsworth Center, was invited to present at the 2025 North American Cystic Fibrosis Conference, held October 22–25 in Seattle, Washington. Her presentation, “Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) Variant Classification in the Newborn Screening Setting,” was featured in a session titled “Everything You Ever Wanted to Know (& more!) About CFTR Variant Interpretation.” The session explored classification of cystic fibrosis (CF) gene variants using the standardized framework of the American College of Medical Genetics and Genomics (ACMG) and best practices for communicating results to healthcare providers.
Early identification of cystic fibrosis through newborn screening is essential for improving long-term health outcomes. Cystic fibrosis is a progressive genetic disorder affecting the lungs, pancreas, and other organs, with symptoms that can include poor growth, chronic cough, recurrent respiratory infections, and male infertility. Approximately 40,000 individuals in the United States live with cystic fibrosis. Thanks to continued advances in screening and treatment, the median expected survival has risen dramatically – from childhood in the 1950s, to 34 years for individuals born between 2000 and 2004, and now to about 65 years for those born between 2020 and 2024.
Genetic analysis is a critical component of cystic fibrosis diagnosis, and all U.S. newborn screening programs include CF genetic testing as part of their screening algorithms. New York State’s approach is among the most comprehensive, designed to ensure both sensitivity and equity across diverse populations. Accurate classification and interpretation of CFTR gene variants is among the most complex and important challenges faced by screening laboratories.
The North American Cystic Fibrosis Conference is the largest annual gathering of CF professionals, bringing together over 4,000 scientists, clinicians, and public health experts from around the world to share advances in research, diagnostics, care, and drug development—all with the shared goal of improving the lives of people affected by cystic fibrosis.