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    Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children

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    Author
    Vears, DF; Ayres, S; Boyle, J; Mansour, J; Newson, AJ
    Date
    2020-06-01
    Source Title
    Twin Research and Human Genetics
    Publisher
    CAMBRIDGE UNIV PRESS
    University of Melbourne Author/s
    Vears, Danya
    Affiliation
    Melbourne Law School
    Metadata
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    Document Type
    Journal Article
    Citations
    Vears, D. F., Ayres, S., Boyle, J., Mansour, J. & Newson, A. J. (2020). Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children. TWIN RESEARCH AND HUMAN GENETICS, 23 (3), pp.184-189. https://doi.org/10.1017/thg.2020.51.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/252117
    DOI
    10.1017/thg.2020.51
    Abstract
    In 2020, the Human Genetics Society of Australasia released its Position Statement on Predictive and Presymptomatic Genetic Testing in Adults and Children. This Position Statement synthesizes the major practical, psychosocial and ethical considerations associated with presymptomatic and predictive genetic testing in adults who have the capacity to make a decision, children and young people who lack capacity and adults living with reduced or fluctuating capacity. Recommendations include that predictive testing in adults, young people and children should only be offered with pretest genetic counseling and the option of posttest genetic counseling. An individual considering (for themselves or on behalf of another) whether to have a predictive test should also be supported to allow them to make an autonomous and informed decision. Predictive testing should only be offered to children and young people for conditions where there is likely to be a direct medical benefit to them through surveillance, use of prevention strategies or other medical interventions in the immediate future. Where symptoms are likely to develop in childhood, in the absence of options to implement surveillance or risk reduction measures, genetic health professionals and parents/guardians should discuss whether undertaking predictive testing is the best course of action for the child and the family as a whole. Where symptoms are likely to develop in adulthood, the default position should be to postpone predictive testing until the young person achieves the capacity to make their own autonomous and informed decision.

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