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