NACFC 2022 | W28: Clinical Genetics and Beyond

Identification and interpretation of CFTR variation in the context of a clinical presentation impacts diagnosis and clinical care, particularly in the era of highly effective modulator treatment. However, challenges exist regarding test selection, follow-up procedures, interpretation of genotype, access to genetic counseling, and clinical management of infants, children, and adults. This hybrid session of selected abstracts and case examples includes current research on the follow-up of infants with a positive CF newborn screening result and the utility of whole-gene CFTR sequencing, as well as real-world examples of the role that CFTR genotype may play in diagnostic and treatment decisions. Originally recorded November 5, 2022.