Newborn Screening in the United States: Ethical Issues

The purpose of newborn screening is to identify and treat infants with certain conditions prior to the onset of symptoms in order to reduce morbidity and mortality. The development of new technology, including genomic sequencing, has expanded the number of conditions that can be detected in the newborn period. Whether infants should be screened for conditions for which there is no available treatment is a subject of debate. The retention and secondary use of de-identified residual newborn screening dried blood samples without explicit parental permission have been controversial. In light of these challenges, some question whether mandatory newborn screening continues to be justified. This chapter will explore key ethical issues faced by state newborn screening programs in the United States.