Related Experiment Video
Updated: Aug 5, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
To screen or not to screen G6PD deficiency in gNBS: insights from the BabyDetect pilot and current evidence
Valerie Jacquemin1,2, Kristine Hovhannesyan1,2, Benoit Florkin3
1Biochemical Genetics Laboratory, CHU of Liege, Avenue de l'Hôpital 1, University of Liege, Liege, Belgium.
Insights
Genomic newborn screening (gNBS) can effectively identify Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common monogenic disorder. Including G6PD deficiency in gNBS offers significant clinical benefits and is feasible with appropriate follow-up protocols.
Area of Science:
- Genetics
- Public Health
- Neonatal Medicine
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common monogenic disorder globally.
- Screening for G6PD deficiency is inconsistent across Europe, despite its association with neonatal hyperbilirubinemia and hemolytic crises.
Purpose of the Study:
- To assess the readiness of G6PD deficiency for inclusion in first-tier genomic newborn screening (gNBS) panels.
- To evaluate the complementary role of genomic screening alongside biochemical methods.
Main Methods:
- Utilized data from the Belgian BabyDetect pilot study, comparing genomic and biochemical newborn screening.
- Employed an adapted NEXUS 2015 framework to evaluate screening readiness based on clinical benefit, feasibility, and evidence strength.
- Reviewed international evidence and economic modeling regarding G6PD deficiency screening.
Main Results:
- Genomic screening identified 94 newborns with pathogenic G6PD variants, including 17 missed by routine biochemical screening.
- G6PD deficiency scored 17/21 on the NEXUS framework, indicating strong clinical benefit and feasibility.
- Economic modeling suggests screening value in reducing hyperbilirubinemia complications and improving pharmacovigilance.
Conclusions:
- G6PD deficiency is well-suited for inclusion in gNBS, offering complementary identification of affected neonates.
- Readiness is supported by strong clinical benefits, feasibility, and cost-effectiveness, especially with confirmatory testing and pediatric-led follow-up.
- gNBS for G6PD deficiency can mitigate severe neonatal complications and inform family risk management.
Abstract:
As genomic newborn screening (gNBS) progresses toward broader implementation, questions arise regarding conditions to include on first-tier sequencing panels. Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common monogenic disorder worldwide, is inconsistently screened in Europe despite its established role in neonatal hyperbilirubinemia and hemolytic crises. Using data from the Belgian BabyDetect pilot, one of the first European programs to include the evaluation of genomic and biochemical newborn screening in the same cohort, together with international evidence, we assessed the readiness of G6PD deficiency for inclusion in gNBS. In BabyDetect, genomic screening identified 94 newborns carrying pathogenic or likely pathogenic G6PD variants, including 17 neonates not detected by routine biochemical screening, demonstrating the complementary value of sequencing. However, identifying additional moderately deficient infants introduces uncertainty regarding penetrance, follow-up burden, healthcare impact and cost-effectiveness. Screening readiness was evaluated using an adapted NEXUS 2015 semi-quantitative framework, where G6PD deficiency scored 17/21, reflecting strong clinical benefit, high feasibility and ethical favorability, with moderate analytic validity, population impact, and evidence strength. Published economic modeling suggests the principal value of screening derives from reducing severe hyperbilirubinemia complications and later hemolytic crises, with additional benefits from improved pharmacovigilance and risk mitigation for subsequent siblings within affected families. Given the minimal marginal cost of adding G6PD to existing gNBS workflows, available evidence indicates that G6PD deficiency is well-suited for inclusion in gNBS when paired with confirmatory testing and proportionate, pediatric-led follow-up.
