P483: A framework for reporting genomic newborn screening Results: Illustrative cases from ten international genomic newborn screening programs*

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Heidi Cope, Nidhi P. Shah, François Boemer, Wendy K. Chung, Alessandra Ferlini, Dalia Kasperavičiūtė, Eftychia Oikonomou, Rebecca Reimers, Zornitza Stark, Meekai S. To, Jonathan S. Berg
DOI: 10.1016/j.gimo.2026.103975
Cited by: 0

Abstract

The number of worldwide genomic newborn screening (gNBS) programs has rapidly expanded over the last few years, to over 50 and counting. Evidence from hundreds of thousands of screened newborns will likely be needed to determine the feasibility, acceptability, utility and cost-effectiveness of gNBS to inform potential public health implementation. However, initial published cohorts have been relatively small. Additionally, the way in which gNBS programs have reported results are inconsistent, which may hinder future meta-analyses.

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
103975–103975
Publication date
1 January 2026
Language
EN