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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 cystic fibrosis: A paradigm for public health genetics policy development

Newborn screening for cystic fibrosis: A paradigm for public health genetics policy development

Chapter:
(p.405) 21 Newborn screening for cystic fibrosis: A paradigm for public health genetics policy development
Source:
Genetics and Public Health in the 21st Century
Author(s):

Philip M. Farrell

Michael R. Kosorok

Michael J. Rock

Anita Laxova

Lan Zeng

Gary Hoffman

Ronald H. Laessig

Mark L. Splaingard

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780195128307.003.0021

This chapter illustrates how scientific studies can be used to facilitate public health policy decisions, particularly those concerned with newborn screening programs. More specifically, it reviews the autosomal recessive hereditary disorder cystic fibrosis (CF) and describes how it has become a model disease for policy development in the application of molecular genetics testing to newborn screening. The chapter includes a summary of the salient characteristics of CF, with particular emphasis on epidemiologic and diagnostic considerations; a brief overview of the immunoreactive trypsinogen (IRT) and IRT/DNA tests used to facilitate CF diagnosis in the newborn period through screening; and detailed information on the unique features and results of the Wisconsin CF Neonatal Screening Project, including how and why it was planned, organized, and conducted to access the benefits, risks, and costs of CF neonatal screening.

Keywords:   cystic fibrosis, newborn screening, genetic screening, policy decisions, cystic fibrosis

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