P522: Genomic newborn screening for G6PD deficiency in North Carolina: The burden of screen positive results and parent perspectives

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Heidi Cope, Sara M. Andrews, Ana Forsythe, Samantha Scott, Jennifer Sullivan, Curt Scharfe, Cynthia M. Powell, Elizabeth Jalazo
DOI: 10.1016/j.gimo.2026.104014
Cited by: 0

Abstract

The primary goal of newborn screening (NBS) for G6PD deficiency is to prevent morbidity due to severe neonatal hyperbilirubinemia. In 1989 the World Health Organization recommended NBS for G6PD in populations with a prevalence in males of 3-5%. Several countries in Asia and Europe now have mandatory biochemical G6PD NBS programs. However, G6PD is not included in the US Recommended Uniform Screening Panel (RUSP), and most states do not screen for it. Over 50 worldwide genomic newborn screening (gNBS) research programs are either currently enrolling or in the startup phase.

Fields of Study & Subjects

Neonatal Health and Biochemistry Metabolism and Genetic Disorders Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104014–104014
Publication date
1 January 2026
Language
EN