P465: Newborn genome screening pilot study in South Korea: Comparison with commercial newborn genetic testing

Genetics in Medicine Open 2026 Open access

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Authors: Jun-Hong Park, Soojin Hwang, Ja Hye Kim, Naeun Kwak, Go Hun Seo, Hannah Kim, Beom Hee Lee
DOI: 10.1016/j.gimo.2026.103957
Cited by: 0

Abstract

Genome sequencing (GS) in newborns offers a potential opportunity for early and precise diagnosis of actionable genetic conditions that may be missed by conventional newborn screening. Although newborn GS has been explored internationally for decades, South Korea has recently initiated a pilot newborn GS program, aiming to develop clinical and ethical guidelines through a multidisciplinary team including medical specialists, genetic counselors, and bioethicists (planned for implementation from June 2025).

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
103957–103957
Publication date
1 January 2026
Language
EN