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Genetics and Public Health in the 21st CenturyUsing Genetic Information to Improve Health and Prevent Disease$
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Muin J. Khoury, Wylie Burke, and Elizabeth Thomson

Print publication date: 2000

Print ISBN-13: 9780195128307

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780195128307.001.0001

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

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

Chapter:
(p.431) 22 Newborn screening for sickle cell disease: public health impact and evaluation
Source:
Genetics and Public Health in the 21st Century
Author(s):

Richard S. Olney

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780195128307.003.0022

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

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