Abstract

The purpose of this article is to present a systematic, critical review of literature and data sources pertaining to pediatric cystic fibrosis, emphasizing and evaluating factors of costs and genetic testing. Cystic fibrosis is the most common fatal genetic disease in the United States. Therefore, its cause, prevalence, cost, and prevention make it important for review. Furthermore, the recent National Institutes of Health Consensus Statement on Genetic Testing for Cystic Fibrosis, the laboratory standards and guidelines published by the American College of Medical Genetics, the American College of Obstetricians and Gynecologists, and the National Human Genome Research Institute, and the increasing interest in genetic testing make it timely to discuss this major pediatric health topic. A broad educational effort, particularly among health care professionals, and genetic screening are advocated.

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