Newborn Screening Using Genome Sequencing for Early Actionable Conditions—Reply

2025/02/24 by Alban Ziegler, Wendy K. Chung
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Congenital heart defects research #Metabolism and Genetic Disorders

paper · doi:10.1001/jama.2024.27289

Abstract

In Reply The comments from Dr Wu and colleagues regarding our recently published article1 highlight important technical, clinical, and ethical considerations in the use of genomic sequencing for newborn screening.

Related

• The case against genomic sequencing of healthy newborns
• Sequencing Newborns:A Call for Nuanced Use of Genomic Technologies
• Towards genomic newborn screening, part II: outlining a normative framework
• Towards genomic newborn screening, part I: Mapping the ethical issues
• A multi-dimensional framework for establishing and managing a genomic newborn screening program