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Genomic sequencing may expand newborn screening beyond biochemical tests

March 17, 2026
Source: news-medical.net news-medical.net
News Snapshot:
Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation sequencing is being explored as a complementary screening tool. A review published in Pediatric Investigation examines how next-generation sequencing could expand NBS from single-disease assays to genome-enabled, multi-disease screening approaches. Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before symptoms emerge. Newborn screening (NBS) programs have traditionally relied on biochemical markers to identify specific groups of treatable conditions, achieving remarkable success at a population level. However, as...
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