Chapter

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

Philip M. Farrell, Michael R. Kosorok, Michael J. Rock, Anita Laxova, Lan Zeng, Gary Hoffman, Ronald H. Laessig and Mark L. Splaingard

in Genetics and Public Health in the 21st Century

Published in print September 2000 | ISBN: 9780195128307
Published online September 2009 | e-ISBN: 9780199864485 | DOI: http://dx.doi.org/10.1093/acprof:oso/9780195128307.003.0021

Series: Oxford Monographs on Medical Genetics

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

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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

Chapter.  10035 words.  Illustrated.

Subjects: Public Health and Epidemiology

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