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Population-based, first-tier genomic newborn screening in the maternity ward
François Boemer1, Kristine Hovhannesyan2, Flavia Piazzon2
1Biochemical Genetics Lab, Department of Human Genetics, CHU Liege, University of Liege, Liege, Belgium. f.boemer@chuliege.be.
Nature Medicine
|January 28, 2025
Summary
Integrating genetic testing into newborn screening (NBS) identifies numerous treatable genetic disorders, including many missed by standard methods. This pilot project highlights the potential of genomic approaches for early disease detection in newborns.
Area of Science:
- Genomics
- Medical Genetics
- Public Health
Background:
- Advancements in therapies for rare genetic disorders necessitate improved newborn screening (NBS).
- Current NBS programs often rely on biochemical methods, potentially missing treatable genetic conditions.
Purpose of the Study:
- To evaluate the feasibility and yield of deep sequencing for identifying treatable genetic disorders in newborns.
- To assess the effectiveness of integrating genomic testing into existing NBS programs.
Main Methods:
- Developed a deep sequencing workflow targeting 405 genes for 165 pediatric disorders.
- Conducted a prospective observational pilot study (BabyDetect) in Belgium.
- Recruited 3,847 families and analyzed genetic data from newborns.
Main Results:
- Identified 71 disease cases, with 30 missed by conventional NBS.
- Glucose-6-phosphate dehydrogenase deficiency was the most common disorder (44 cases).
- Detected 17 recessive and 9 heterozygous dominant conditions, alongside one false-positive case.
Conclusions:
- Integrating genomic methods alongside biochemical screening enhances the detection of treatable genetic disorders in newborns.
- Variant interpretation and result reporting in presymptomatic populations require careful consideration and validation.
- The BabyDetect project demonstrates the value of advanced genetic testing in NBS programs for early diagnosis and intervention.
