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Evaluation of a Tay-Sachs Disease screening program

Authors

  • AA Gason,

    1. Murdoch Childrens Research Institute and
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  • E Sheffield,

    1. Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria, Australia,
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  • A Bankier,

    1. Murdoch Childrens Research Institute and
    2. Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria, Australia,
    3. Department of Paediatrics, Monash University, Clayton, Victoria, Australia,
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  • MA Aitken,

    1. Murdoch Childrens Research Institute and
    2. Cooperative Research Center for Discovery of Genes for Common Human Diseases, Richmond, Victoria, Australia,
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  • S Metcalfe,

    1. Murdoch Childrens Research Institute and
    2. Cooperative Research Center for Discovery of Genes for Common Human Diseases, Richmond, Victoria, Australia,
    3. Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia,
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  • K Barlow Stewart,

    1. New South Wales Genetic Education Program, Royal North Shore Hospital, St. Leonards, New South Wales, Australia
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  • MB Delatycki

    Corresponding author
    1. Murdoch Childrens Research Institute and
    2. Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria, Australia,
    3. Department of Paediatrics, Monash University, Clayton, Victoria, Australia,
    4. Cooperative Research Center for Discovery of Genes for Common Human Diseases, Richmond, Victoria, Australia,
    5. Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia,
      Corresponding author: Dr Martin Delatycki, Medical Geneticist, Genetic Health Services Victoria, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052, Victoria, Australia. Tel.: +61-38341-6284; fax: +61-38341-6390; e-mail: delatycm@cryptic.rch.unimelb.edu.au
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Corresponding author: Dr Martin Delatycki, Medical Geneticist, Genetic Health Services Victoria, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052, Victoria, Australia. Tel.: +61-38341-6284; fax: +61-38341-6390; e-mail: delatycm@cryptic.rch.unimelb.edu.au

Abstract

Tay-Sachs Disease (TSD) is an autosomal recessive neurodegenerative disorder. TSD is prevalent in the Ashkenazi Jewish population, and carrier screening programs have been implemented worldwide in these communities. A screening program initiated in 1997 involving the Melbourne Jewish community (Australia) incorporated education, counselling and carrier testing of high-school students aged 15 to 18 years. This study aimed to assess the participation rates, level of knowledge obtained and predicted feelings and attitudes of the students involved. Seven hundred and ten students participated, there was a 67% uptake for testing with a carrier rate of 1 in 28 determined. The level of knowledge of the students following education was high and of relative importance in regard to decision making, as were their feelings and attitudes about genetic testing for carrier status. A significant impediment to test uptake was the need for blood sampling, resulting in a recommendation for the introduction of DNA analysis on cheek brush samples. The evaluation of this program has given a wider scope for further development as well as providing valuable information for the implementation of community screening programs.

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