P630: Targeting CFTR deletions and duplications in cystic fibrosis newborn screening: Implications for sensitivity and equity

Genetics in Medicine Open 2026 Open access

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Authors: Robert J. Sicko, Erin E. Hughes, Lea M. Krein, Jacklyn Dott, Breanne Maloney, Marilyn Erickson, Christopher J. Brandon, Jing Xiao, Carlos A. Saavedra‐Matiz, Norma P. Tavakoli, Denise Kay
DOI: 10.1016/j.gimo.2026.104120
Cited by: 0

Abstract

Since 2009, all newborn screening (NBS) programs in the US screen for Cystic fibrosis (CF). Although all NBS algorithms currently include CFTR genotyping in infants with elevated immunoreactive trypsinogen (IRT), there are large variations in variant panels. The CFTR2 project has catalogued 1,085 well-established CF-causing variants. As of 2025, most programs genotype 39-139 variants, as the largest commercially available panel targets 139 variants. Some screening programs reflex to CFTR sequencing if one panel variant or ultra-high IRT but no panel variants are detected, to identify pathogenic non-panel variants.

Fields of Study & Subjects

Cystic Fibrosis Research Advances Genomics and Rare Diseases Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104120–104120
Publication date
1 January 2026
Language
EN