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Mol Genet Metab. 2001 Sep-Oct;74(1-2):64-74.

U.S. newborn screening policy dilemmas for the twenty-first century.

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Department of Pediatrics, University of Texas Health Science Center at San Antonio, Austin, Texas 78757, USA. THERRELL@UTHSCSA.EDU


Newborn screening has traditionally referred to biochemical testing for inherited disorders, generally metabolic in origin, that are usually correctable by dietary or drug interventions. As new tests have been developed, state public health newborn screening systems have slowly evolved without the benefit of national policies. Thus, newborn screening program changes, when viewed nationally, have been uncoordinated. The net result has been unequally applied mandated screening and, consequently, unequal availability of related public health disease prevention services. Technological advances in laboratory testing over the past 10 years have resulted in limited program changes in some state newborn screening systems, and even greater program disparities. A recent Newborn Screening Task Force identified numerous issues of concern and proposed elements for a plan of action involving public health programs, healthcare providers, and consumers. This minireview details past policy history in newborn screening and identifies some of the current issues confronting programs as they seek to move ahead with the technologies and medical treatments for the twenty-first century.

[Indexed for MEDLINE]

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