Abstract

Parents, providers, policy makers, and the public need to talk about the implications of advances in genomic technologies for state run newborn metabolic screening programs. Technologies, such as highly multiplex testing and whole genome sequencing, are raising old issues with new urgency and are posing new challenges that threaten to overwhelm newborn screening programs.Newborn screening programs in their current form were born in the late 1960s. Robert Guthrie developed a screening test for phenylketonuria that could be performed on blood spots collected on filter cards that Guthrie also developed. States rapidly established newborn screening programs, which were almost always mandatory, in response to advocacy by geneticists and parents. Although the programs initially varied in form and experienced significant pushback from the medical community, by the early 1970s, all states had established programs with centralized laboratories, and the medical community had come on board.