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    Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

    Access Status
    Open access via publisher
    Authors
    Delatycki, M.
    Burke, J.
    Christie, L.
    Collins, F.
    Gabbett, M.
    George, P.
    Haan, E.
    Ioannou, L.
    Martin, N.
    McKenzie, F.
    O'Leary, Peter
    Scoble-Williams, N.
    Turner, G.
    Massie, J.
    Date
    2014
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Delatycki, M. and Burke, J. and Christie, L. and Collins, F. and Gabbett, M. and George, P. and Haan, E. et al. 2014. Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis. Twin Research and Human Genetics. 17 (6): pp. 578-583.
    Source Title
    Twin Research and Human Genetics
    DOI
    10.1017/thg.2014.65
    ISSN
    1832-4274
    Faculty
    Faculty of Health Sciences
    URI
    http://hdl.handle.net/20.500.11937/14289
    Collection
    • Curtin Research Publications
    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 populationbased 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 withCF 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.

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