Genetics experts support adding hundreds of treatable rare diseases to newborn screening

National Center for Advancing Translational Sciences |
May 2023

“In a newly released study, nearly nine of 10 experts on rare diseases agreed that sequencing healthy newborns’ DNA to reveal treatable genetic disorders should be available for all infants. At least half of experts also endorsed testing for more than 400 genes as part of such newborn genomic screens. These NCATS-supported study results might help make DNA testing a common part of newborn screening, potentially allowing lifesaving treatments to be delivered sooner to more babies who need them.”