As the capability to sequence an individual’s genome or exome continues to expand—and the cost continues to fall—more states are considering how next generation sequencing (NGS) could support their newborn screening programs, which test approximately four million babies born in the United States each year for congenital, treatable diseases.
Results from NGS can help enhance newborn screening programs by providing more information beyond traditional biochemical and other tests. Not all states have the expertise needed to interpret NGS results,
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