Next-generation sequencing (NGS) enhances traditional newborn screening by identifying serious genetic conditions that biochemical tests may miss.
2
Genomic newborn screening (gNBS) can detect disease-causing genetic variants, enabling earlier identification of inherited conditions.
3
Pilot programs show gNBS identifies actionable genetic diseases missed by standard screening, including immunodeficiencies and neuromuscular disorders.
4
Current gNBS initiatives focus on well-characterized conditions to minimize ambiguous results and reduce parental anxiety.
5
Advancements in rapid sequencing pipelines are reducing turnaround times, with results now available in about 7 days for critically ill infants.
