title: Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research.
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.
authors.affiliation: 1] Murdoch Childrens Research Institute, Parkville, Victoria, Australia [2] Department of Medicine, Monash University, Clayton, Victoria, Australia.
authors.forename: Liane
authors.initials: L
authors.lastname: Ioannou
authors.affiliation: Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
authors.forename: Belinda J
authors.initials: BJ
authors.lastname: McClaren
authors.affiliation: 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.
authors.forename: John
authors.initials: J
authors.lastname: Massie
authors.affiliation: Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
authors.forename: Sharon
authors.initials: S
authors.lastname: Lewis
authors.affiliation: Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
authors.forename: Sylvia A
authors.initials: SA
authors.lastname: Metcalfe
authors.affiliation: Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
authors.forename: Laura
authors.initials: L
authors.lastname: Forrest
authors.affiliation: 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.
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D010342:Patient Acceptance of Health Care / Q000523:psychology / Q000706:statistics & numerical data; D010358:Patient Participation / Q000523:psychology / Q000706:statistics & numerical data; D011159:Population Surveillance / Q000379:methods