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Direct-to-consumer personal genome testing: ethical and regulatory issues that arise from wanting to ‘know’ your DNA

Authors

  • G. N. Samuel,

    Corresponding author
    1. Centre for Values, Ethics and the Law in Medicine, The University of Sydney,
    2. Centre for Biomedicine and Society, King's College London, London, UK
      Gabrielle N. Samuel, Centre for Values, Ethics and the Law in Medicine, Building 1, Level 1, Medical Foundation Building (K25), The University of Sydney, Sydney, NSW 2006, Australia. Email: gabbysamuel@googlemail.com
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  • C. F. C. Jordens,

    1. Centre for Values, Ethics and the Law in Medicine, The University of Sydney,
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  • I. Kerridge

    1. Centre for Values, Ethics and the Law in Medicine, The University of Sydney,
    2. Haematology Department, Westmead Hospital, Sydney, New South Wales, Australia, and
    3. Centre for Biomedicine and Society, King's College London, London, UK
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  • Authors' contribution: All authors contributed to the intellectual planning and writing of this paper. Contribution levels are as indicated by authorship order. The authors have no conflicts of interest to declare.

Gabrielle N. Samuel, Centre for Values, Ethics and the Law in Medicine, Building 1, Level 1, Medical Foundation Building (K25), The University of Sydney, Sydney, NSW 2006, Australia. Email: gabbysamuel@googlemail.com

Abstract

Direct-to-consumer personal genome testing (DTC-PGT) screens a customer's genome for the presence of single nucleotide polymorphisms that are reported to be associated with various diseases, disease risk factors and personal characteristics. The range of health risks covered by personal genome testing (PGT) includes cancer, heart disease, obesity, diabetes mellitus and osteoporosis. PGT also detects a range of other characteristics, such as alcohol ‘flush reaction’, eye colour, ear wax type and bitter taste perception. Information about ancestry and family history is also available. Although DTC-PGT is still a relatively new enterprise, the technology has the potential for rapid expansion as it becomes more accessible to consumers who wish to obtain information about their genetic profile. This review provides an overview of the broader ethical and regulatory issues raised by personal genome tests that are marketed directly to the public, and that purport to provide information about health risks. We discuss the emergence of DTC-PGT in Australia, and the possible regulatory responses that may be taken to manage it.

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