In the early 1960s, a Massachusetts program for testing neonatesfor phenylketonuria became the first organized effort to screennewborns for genetic or metabolic disease in order to identifytreatable disorders before they became symptomatic. Since thattime, newborn-screening programs have expanded to include additionalgenetic and nongenetic conditions and have been implementedin all U.S. states, as well as in other countries. Althoughthe importance and clinical successes of such screening arewell recognized, many issues in newborn-screening policy andpractice remain controversial.1,2
Newborn screening in the United States is mandated and regulatedby the states, with little direction . . . [Full Text of this Article]
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Dr. Natowicz is a medical geneticist and clinical pathologist at the Cleveland Clinic Foundation, Cleveland.
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