Ashkenazi Jewish population screening for Tay–Sachs disease: The International and Australian experience

Authors

  • Raelia M Lew,

    Corresponding author
    1. Department of Obstetrics and Gynaecology, QEII Research Institute for Mothers and Infants, University of Sydney, Sydney, New South Wales, Australia
    • Correspondence: Dr Raelia M Lew, Department of Obstetrics and Gynaecology, D02 The Queen Elizabeth II Research Institute for Mothers and Infants, The Queen Elizabeth II and Victor Coppleson Building, Blackburn Avenue, University of Sydney, NSW 2006, Australia. Fax: +612 93514560; email: rlew2064@uni.sydney.edu.au

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  • Leslie Burnett,

    1. Sydney Medical School-Northern, Royal North Shore Hospital E25, University of Sydney, Sydney, New South Wales, Australia
    2. Pacific Laboratory Medicine Services (PaLMS), NSW Health Pathology North, Royal North Shore Hospital, Sydney, New South Wales, Australia
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  • Anné L Proos,

    1. Pacific Laboratory Medicine Services (PaLMS), NSW Health Pathology North, Royal North Shore Hospital, Sydney, New South Wales, Australia
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  • Kristine Barlow-Stewart,

    1. Sydney Medical School-Northern, Royal North Shore Hospital E25, University of Sydney, Sydney, New South Wales, Australia
    2. NSW Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia
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  • Martin B Delatycki,

    1. Department of Clinical Genetics, Austin Health, Melbourne, Victoria, Australia
    2. Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia
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  • Agnes Bankier,

    1. Department of Clinical Genetics, Austin Health, Melbourne, Victoria, Australia
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  • Harry Aizenberg,

    1. Wolper Jewish Hospital, Sydney, New South Wales, Australia
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  • Michael J Field,

    1. Department of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia
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  • Yemima Berman,

    1. Sydney Medical School-Northern, Royal North Shore Hospital E25, University of Sydney, Sydney, New South Wales, Australia
    2. Department of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia
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  • Ronald Fleischer,

    1. Department of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia
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  • Michael Fietz

    1. Department of Biochemical Genetics, SA Pathology, Adelaide, South Australia, Australia
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  • Conflict of interest: Raelia M Lew, Leslie Burnett, Anné L Proos, Kristine Barlow-Stewart, Martin B Delatycki, Agnes Bankier, Harry Aizenberg, Michael J Field, Yemima Berman, Ronald Fleischer and Michael Fietz declare no conflict of interest.

Abstract

Internationally, Tay-Sachs disease (TSD) preconception screening of Ashkenazi Jewish (AJ) individuals and couples has led to effective primary prevention of TSD. In Australia, adolescent preconception genetic screening programs operate mainly in Jewish community high schools. These existing programs offer an effective means of primary prevention of TSD, are cost effective and safe. However, in the broader Australian community TSD screening is not systematically performed and cases still occur in unscreened AJ individuals. In order to improve the effectiveness of Australian screening, there is a need for definitive guidelines for healthcare professionals to facilitate extension of the proven benefits of preconception TSD screening to all AJ individuals at risk. We performed a systematic review of the relevant literature relating to AJ pre-conception and antenatal screening for TSD. The evidence was assessed using an established National Health and Medical Research Council evidence grading system. Evaluations of efficacy of TSD screening programs design and execution, cost-benefit and cost-utility health economic evaluation, and population outcomes were undertaken. The results have been used to propose a model for universal AJ TSD preconception and antenatal screening for the primary care setting.

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