Use of Genomics in Newborn Screening Programs: The Promise and Challenges

All infants born in the United States are screened for certain disorders soon after birth through state-based newborn screening programs. While most screening is done using tandem mass spectrometry, many newborn screening programs use DNA sequencing of individual genes for follow-up testing of infants with positive initial screens. This requires a tiered approach, in which results from each step inform what is done next. While this can add complexity to screening protocols, single-gene sequencing can decrease the need for diagnostic testing in some infants, which represents a substantial burden for newborn screening programs.

While some have called for newborn screening using whole exome or whole genome sequencing, substantial barriers exist, including cost, privacy, equity in access, and the need for informed consent for sequencing of identifiable individuals. However, these technologies could play a role in testing those who screen positive using initial biochemical screens.

Join us as we discuss both current and potential future use of genomics in newborn screening.