Lessons learned from newborn screening for phenylketonuria

Kenneth A. Pass

in Genetics and Public Health in the 21st Century

Published in print September 2000 | ISBN: 9780195128307
Published online September 2009 | e-ISBN: 9780199864485 | DOI:

Series: Oxford Monographs on Medical Genetics

Lessons learned from newborn screening for phenylketonuria

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This chapter discusses the lessons learned from newborn screening for phenylketonuria (PKU) in the U.S. Newborn screening is, conceptually, a simple public health program with well-defined goals. The implementation of a successful program requires many components outside the testing laboratory, extensive expertise in areas ranging from phlebotomy to genetic counseling, attention to innumerable details, and, above all, dedication by all staff involved. In terms of public health impact, newborn screening touches more lives daily than perhaps any other public health program, and its influence now extends far beyond the perinatal period.

Keywords: genetic screening; newborn screening; birth defects; public health; health care

Chapter.  8815 words. 

Subjects: Public Health and Epidemiology

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