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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 Medicine, Monash University, Clayton, Victoria, Australia Department of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria, Australia Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia Murdoch Childrens Research Institute, Parkville, Victoria, Australia Clinical Genetics, Austin Health, Heidelberg, 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 | URI: | http://ahro.austin.org.au/austinjspui/handle/1/11871 | DOI: | 10.1038/gim.2013.125 | Journal: | Genetics in medicine : official journal of the American College of Medical Genetics | URL: | https://pubmed.ncbi.nlm.nih.gov/24030436 | Type: | Journal Article | Subjects: | Cystic Fibrosis.diagnosis.genetics.psychology Genetic Testing.methods Health Knowledge, Attitudes, Practice Heterozygote Detection.methods Humans 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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