Enhancing neonatal health: Genomic sequencing as a primary screening tool
Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly assessing a comprehensive range of monogenic disorders. Yet, the effectiveness of genetic sequencing as an alternative method for NBS has not previously been studied.
To evaluate the outcomes of applying gene panel sequencing as a first-tier newborn screening test, a recent study conducted by eight NBS centers and BGI Genomics was ...















