Richard West, Founder and CEO of Baebies, discusses the public health program of newborn screening. Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the jurisdiction. The number of diseases screened for is set by each jurisdiction, and can vary greatly. Most newborn screening tests are done by measuring metabolites and enzyme activity in whole blood samples collected on specialized filter paper.
Many areas are starting to screen infants for hearing loss using automated auditory brainstem response and congenital heart defects using pulse oximetry. Infants who screen positive undergo further testing to determine if they are truly affected with a disease or if the test result was a false positive. Follow-up testing is typically coordinated between geneticists and the infant’s pediatrician or primary care physician.