Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

(Abstracted from JAMA 2025;333(3):232–240 Newborn screening (NBS) checks for congenital conditions that can be treated before symptoms start and lead to irreversible effects; these include conditions such as metabolic disease, cystic fibrosis, hearing impairment, endocrine disorders, hemoglobinopathies, severe combined immunodeficiency, and other conditions that are often genetic. Genetic sequencing is typically second-tier in terms of NBS, being used chiefly to identify genes involved in a condition such as cystic fibrosis.