Opinion: Delays in adding new newborn screening tests harm babies, families

Individuals with genetic diseases often face an excruciatingly long diagnostic odyssey. Between the time they first experience symptoms and the time they get a definitive diagnosis, some see the disease progress, others suffer irreversible damage, and many may experience significantly decreased quality of life. By identifying some of these diseases very early in life, newborn screening programs save and improve the lives of thousands of infants in the U.S. every year.

State-run screening programs can identify many affected individuals at birth, but their fragmented nature and delays in incorporating new tests results in unnecessary suffering for children born with addressable disorders who go undiagnosed because they are born in states that move slowly to adopt screening tests.