Genomic sequencing may expand newborn screening beyond biochemical tests
Sebastian Ujică
Pediatric Investigation Mar 16 2026 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
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