From PKU to Genome Sequencing: The Past, Present, and Future of Newborn Screening
Clin Chem. 2025 Dec 30;72(1):123-132. doi: 10.1093/clinchem/hvaf148. ABSTRACT BACKGROUND: Newborn screening (NBS) is a foundational public health program designed to identify severe but treatable conditions in presymptomatic newborns. Since Robert Guthrie introduced the phenylketonuria test in the 1960s, NBS has evolved from single-condition assays to multiplex platforms, enabling early diagnosis, intervention, and long-term follow-up. Understanding … Read more