title: Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
abstract: Since the discovery in 1989 that mutations in cystic fibrosis transmembrane conductance regulator (CFTR) underlie cystic fibrosis (CF), the most common life shortening genetic disorder in Caucasians, it has been possible to identify heterozygous mutation carriers at risk of having affected children. The Human Genetics Society of Australasia has produced a position statement with recommendations in relation to population-based screening for CF. These include: (1) that screening should be offered to all relatives of people with or carriers of CF (cascade testing) as well as to all couples planning to have children or who are pregnant; (2) the minimum CFTR mutation panel to be tested consists of 17 mutations which are those mutations that are associated with typical CF and occur with a frequency of 0.1% or higher among individuals diagnosed with CF in Australasia; (3) that genetic counselling is offered to all couples where both members are known to have one or two CFTR mutations and that such couples are given the opportunity to meet with a physician with expertise in the management of CF as well as a family/individual affected by the condition.
authors.affiliation: Clinical Genetics,Austin Health,Melbourne,Victoria,Australia.
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
authors.affiliation: Tasmanian Clinical Genetics Services,Hobart,Tasmania,Australia.
authors.forename: Jo
authors.initials: J
authors.lastname: Burke
authors.affiliation: Hunter Genetics,Newcastle,New South Wales,Australia.
authors.forename: Louise
authors.initials: L
authors.lastname: Christie
authors.affiliation: Clinical Genetics,The Children's Hospital at Westmead,Sydney,New South Wales,Australia.
authors.forename: Felicity
authors.initials: F
authors.lastname: Collins
authors.affiliation: Genetic Health Queensland and The University of Queensland,Brisbane,Queensland,Australia.
authors.forename: Michael
authors.initials: M
authors.lastname: Gabbett
authors.affiliation: University of Otago,Christchurch,New Zealand.
authors.forename: Peter
authors.initials: P
authors.lastname: George
authors.affiliation: South Australian Clinical Genetics Service,SA Pathology (at Women's and Children's Hospital), andUniversity of Adelaide,School of Paediatrics and Reproductive Health,Adelaide,South Australia,Australia.
authors.forename: Eric
authors.initials: E
authors.lastname: Haan
authors.affiliation: Murdoch Childrens Research Institute,Melbourne,Victoria,Australia.
authors.forename: Liane
authors.initials: L
authors.lastname: Ioannou
authors.affiliation: Queensland Fertility Group,Brisbane,Queensland,Australia.
authors.forename: Nicole
authors.initials: N
authors.lastname: Martin
authors.affiliation: Genetic Services of Western Australia,Perth,Western Australia,Australia.
authors.forename: Fiona
authors.initials: F
authors.lastname: McKenzie
authors.affiliation: Curtin University,Bentley,Western Australia,Australia.
authors.forename: Peter
authors.initials: P
authors.lastname: O'Leary
authors.affiliation: IVF Australia,Bondi Junction,New South Wales,Australia.
authors.forename: Nicole
authors.initials: N
authors.lastname: Scoble-Williams
authors.affiliation: University of Newcastle,Newcastle,New South WalesAustralia.
authors.forename: Gillian
authors.initials: G
authors.lastname: Turner
authors.affiliation: Murdoch Childrens Research Institute,Melbourne,Victoria,Australia.
authors.forename: John
authors.initials: J
authors.lastname: Massie
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics*; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D009154:Mutation
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator