BGI and Fudan University led a prospective cohort study evaluating whole-genome sequencing–based newborn screening (NBS) in China, reporting that WGS identified single-gene conditions missed by conventional biochemical screening from dried blood spots. The study followed 9,992 newborns enrolled in Qingdao between 2020 and 2021 and assessed outcomes through March 2025. Investigators analyzed 214 genes tied to 222 diseases, initially identifying 268 infants (nearly 3%) with pathogenic or likely pathogenic variants. Eight clinically confirmed cases were detected by WGS that routine NBS approaches did not pick up, including hearing loss and metabolic disorders such as G6PD deficiency, Wilson disease, and PKU. The analysis also included re-review of sequence results for initially negative newborns who later developed symptoms, finding additional phenotype-related variants. The work compares WGS findings with required or routine NBS workflows, including mass-spectrometry-based metabolic screens. The results add clinical evidence to the question of feasibility and public acceptance for WGS-first NBS, while providing a framework for which conditions might gain most from genomics-based screening.