Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early detection of hereditary and metabolic diseases. With advances in genomic technology, genomic NBS (gNBS) is gradually overcoming the limitations of conventional biochemical NBS and emerging as an innovative approach. This review systematically summarizes the developmental trajectory of NBS, highlighting the transformative transition from conventional biochemical methods to genetic approaches. It also presents global initiatives and preliminary findings from gNBS practices. Although gNBS offers broad potential applications, several critical challenges must be addressed to optimize its clinical implementation. Comprehensive international collaboration is essential for advancing gNBS and enhancing newborn health worldwide.