P153: Longitudinal clinical outcomes and early-life penetrance in a genomic newborn screening cohort: 25-month follow-up from the NeoGen study

Genetics in Medicine Open 2026 Open access

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Authors: Diana Carli, Paola Quarello, Francesco Porta, Celeste Cagnazzo, Giulia Zucchetti, Camilla Francesca Proto, Rebecca Gianasso, Elisa Biamino, Caterina Carbonara, Alessandra Coscia, Caterina Parlato, Beatrice Fenoglio
+5 more Simonetta Guarrera, Marco Spada, Alessandro Mussa, Saverio Minucci, Franca Fagioli
DOI: 10.1016/j.gimo.2026.103647
Cited by: 0

Abstract

Genome sequencing (GS) has broadened the scope of newborn screening (NBS) by enabling early detection of actionable genetic conditions beyond traditional biochemical methods. However, its real-world clinical impact remains uncertain, particularly regarding age-dependent penetrance, and the proportion of screened newborns who ultimately develop a phenotype. We present updated follow-up data from the NeoGen study to assess diagnostic confirmation rates, segregation patterns, and early-life penetrance in a genomic NBS cohort.

Fields of Study & Subjects

Genomics and Rare Diseases Metabolism and Genetic Disorders Prenatal Screening and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103647–103647
Publication date
1 January 2026
Language
EN