Newborn screening for sickle cell disease: public health impact and evaluation

Richard S. Olney

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

Newborn screening for sickle cell disease: public health impact and evaluation

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This chapter provides a broad overview of public health aspects of newborn hemoglobinopathy screening in the United States, with special emphasis on epidemiologic efforts to evaluate pediatric outcomes after newborn screening. Despite controversies about cost-effectiveness and ethical quandaries of carrier identification and targeted versus universal approaches, newborn screening programs for hemoglobinopathies in the U.S. are firmly entrenched, at least in part because of strong epidemiological data suggesting that early identification of affected newborns is a rational policy. As prevention-oriented policies are directed toward large populations and manifestations of disease complications change, however, ongoing data collection is needed to ensure the effectiveness of these strategies at the community level.

Keywords: newborn screening; genetic screening; public health; newborn hemoglobinopathy screening; cost-effectiveness; hemoglobinopathies

Chapter.  6726 words. 

Subjects: Public Health and Epidemiology

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