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dc.contributor.authorIoannou, Lianeen
dc.contributor.authorMcClaren, Belinda Jen
dc.contributor.authorMassie, Johnen
dc.contributor.authorLewis, Sharonen
dc.contributor.authorMetcalfe, Sylvia Aen
dc.contributor.authorForrest, Lauraen
dc.contributor.authorDelatycki, Martin Ben
dc.identifier.citationGenetics in Medicine : Official Journal of the American College of Medical Genetics 2013; 16(3): 207-16en
dc.description.abstractCystic 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.en
dc.subject.otherCystic Fibrosis.diagnosis.genetics.psychologyen
dc.subject.otherGenetic Testing.methodsen
dc.subject.otherHealth Knowledge, Attitudes, Practiceen
dc.subject.otherHeterozygote Detection.methodsen
dc.subject.otherPatient Acceptance of Health Care.psychology.statistics & numerical dataen
dc.subject.otherPatient Participation.psychology.statistics & numerical dataen
dc.subject.otherPopulation Surveillance.methodsen
dc.titlePopulation-based carrier screening for cystic fibrosis: a systematic review of 23 years of research.en
dc.typeJournal Articleen
dc.identifier.journaltitleGenetics in medicine : official journal of the American College of Medical Geneticsen
dc.identifier.affiliationMurdoch Childrens Research Institute, Parkville, Victoria, Australiaen
dc.identifier.affiliationDepartment of Medicine, Monash University, Clayton, Victoria, Australiaen
dc.identifier.affiliationDepartment of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Parkville, Victoria, Australiaen
dc.identifier.affiliationMurdoch Childrens Research Institute, Parkville, Victoria, Australiaen
dc.identifier.affiliationClinical Genetics, Austin Health, Heidelberg, Victoria, Australiaen
dc.type.austinJournal Articleen
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
item.openairecristype Genetics-
Appears in Collections:Journal articles
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