From the Journals
Feature
The Next Generation of Newborn Screening
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By
February 12, 2026
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3 min
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1
NGS enhances traditional newborn screening.
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2
It identifies genetic disorders missed by biochemical tests.
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3
Pilot programs show significant findings in newborns.
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4
Challenges include variant interpretation and turnaround time.
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5
Rapid sequencing can provide results in 7 days for critically ill infants.
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Next-generation sequencing (NGS) enhances traditional newborn screening by detecting treatable genetic conditions that biochemical tests may overlook. A comprehensive review published in Pediatric Investigation highlights how NGS can identify disease-causing variants, offering earlier and more precise diagnoses. Evidence from international pilot programs shows that genomic screening can reveal cases of genetic diseases missed by standard tests. Although challenges exist, such as interpreting uncertain genetic variants and longer turnaround times, advancements in NGS are paving the way for its integration alongside biochemical assays in structured screening programs.
-
1
NGS enhances traditional newborn screening.
-
2
It identifies genetic disorders missed by biochemical tests.
-
3
Pilot programs show significant findings in newborns.
-
4
Challenges include variant interpretation and turnaround time.
-
5
Rapid sequencing can provide results in 7 days for critically ill infants.
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