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Title: Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research.
Austin Authors: Ioannou, Liane;McClaren, Belinda J;Massie, John;Lewis, Sharon;Metcalfe, Sylvia A;Forrest, Laura;Delatycki, Martin B 
Affiliation: Murdoch Childrens Research Institute, Parkville, Victoria, Australia
Department of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria, Australia
Murdoch Childrens Research Institute, Parkville, Victoria, Australia
Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
Department of Medicine, Monash University, Clayton, Victoria, Australia
Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
Issue Date: 12-Sep-2013
Publication information: Genetics in Medicine : Official Journal of the American College of Medical Genetics 2013; 16(3): 207-16
Abstract: Cystic fibrosis is the most common severe autosomal recessive disease, with a prevalence of 1 in 2,500-3,500 live births and a carrier frequency of 1 in 25 among Northern Europeans. Population-based carrier screening for cystic fibrosis has been possible since CFTR, the disease-causing gene, was identified in 1989. This review provides a systematic evaluation of the literature from the past 23 years on population-based carrier screening for cystic fibrosis, focusing on the following: uptake of testing; how to offer screening; attitudes, opinions, and knowledge; factors influencing decision making; and follow-up after screening. Recommendations are given for the implementation and evaluation of future carrier-screening programs.
Gov't Doc #: 24030436
DOI: 10.1038/gim.2013.125
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Type: Journal Article
Subjects: Cystic Fibrosis.diagnosis.genetics.psychology
Genetic Testing.methods
Health Knowledge, Attitudes, Practice
Heterozygote Detection.methods
Patient Acceptance of Health Care.psychology.statistics & numerical data
Patient Participation.psychology.statistics & numerical data
Population Surveillance.methods
Appears in Collections:Journal articles

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