CLIN
Edward McKone, MD FRCPI
University College Dublin
Karen Raraigh, MGC, CGC (she/her/hers)
Department of Genetic Medicine
Johns Hopkins University
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 will include 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.
Speaker: Elinor Langfelder-Schwind, MS – Lenox Hill Hospital/Northwell Health
Speaker: Eileen Barr, MS, CGC – Emory University and Children's Healthcare of Atlanta
Speaker: Karen S. Raraigh – Johns Hopkins University
Speaker: Scott C. Bell, MBBS, MD, FRACP – The Prince Charles Hospital
Speaker: Michael Wilschanski, MD – Hadassah Medical Center, Jerusalem