MedCity News September 22, 2023
Standard newborn screening can detect dozens of inherited diseases, but genomics technology enables testing for hundreds of them. A North Carolina program evaluating the feasibility of bringing genomics to newborn screening is expanding with an initial goal of testing 5,000 babies in the next year.
Soon after birth, a baby receives its first diagnostic test—a small heel prick yielding several blood drops analyzed for dozens of inherited conditions. Newborn screening is standard in all states. A North Carolina study has been evaluating how genome sequencing can supplement standard blood tests, and that program is now ramping up the number of diseases it screens.
Federal guidelines recommend screening for 35 core conditions and 26 secondary ones, though the specific number of...
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