Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/11871
Title: Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research.
Authors: Ioannou, Liane;McClaren, Belinda J;Massie, John;Lewis, Sharon;Metcalfe, Sylvia A;Forrest, Laura;Delatycki, Martin B
Affiliation: 1] Murdoch Childrens Research Institute, Parkville, Victoria, Australia [2] Department of Medicine, Monash University, Clayton, Victoria, Australia.
1] Murdoch Childrens Research Institute, Parkville, Victoria, Australia [2] Department of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria, Australia [3] Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
1] Murdoch Childrens Research Institute, Parkville, Victoria, Australia [2] Department of Medicine, Monash University, Clayton, Victoria, Australia [3] Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia [4] Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.
Issue Date: 12-Sep-2013
Citation: 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.
Internal ID Number: 24030436
URI: http://ahro.austin.org.au/austinjspui/handle/1/11871
DOI: 10.1038/gim.2013.125
URL: http://www.ncbi.nlm.nih.gov/pubmed/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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