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Practice
Open Access

Genome sequencing as a diagnostic test

Gregory Costain, Ronald D. Cohn, Stephen W. Scherer and Christian R. Marshall
CMAJ October 25, 2021 193 (42) E1626-E1629; DOI: https://doi.org/10.1503/cmaj.210549
Gregory Costain
Division of Clinical and Metabolic Genetics (Costain, Cohn), The Hospital for Sick Children; Department of Paediatrics (Costain, Cohn), University of Toronto; Genetics and Genome Biology (Costain, Cohn, Scherer), SickKids Research Institute; Department of Molecular Genetics (Costain, Cohn, Scherer), University of Toronto; The Centre for Applied Genomics (Scherer, Marshall), The Hospital for Sick Children; Department of Laboratory Medicine and Pathobiology (Marshall), University of Toronto; Genome Diagnostics (Marshall), Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ont.
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Ronald D. Cohn
Division of Clinical and Metabolic Genetics (Costain, Cohn), The Hospital for Sick Children; Department of Paediatrics (Costain, Cohn), University of Toronto; Genetics and Genome Biology (Costain, Cohn, Scherer), SickKids Research Institute; Department of Molecular Genetics (Costain, Cohn, Scherer), University of Toronto; The Centre for Applied Genomics (Scherer, Marshall), The Hospital for Sick Children; Department of Laboratory Medicine and Pathobiology (Marshall), University of Toronto; Genome Diagnostics (Marshall), Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ont.
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Stephen W. Scherer
Division of Clinical and Metabolic Genetics (Costain, Cohn), The Hospital for Sick Children; Department of Paediatrics (Costain, Cohn), University of Toronto; Genetics and Genome Biology (Costain, Cohn, Scherer), SickKids Research Institute; Department of Molecular Genetics (Costain, Cohn, Scherer), University of Toronto; The Centre for Applied Genomics (Scherer, Marshall), The Hospital for Sick Children; Department of Laboratory Medicine and Pathobiology (Marshall), University of Toronto; Genome Diagnostics (Marshall), Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ont.
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Christian R. Marshall
Division of Clinical and Metabolic Genetics (Costain, Cohn), The Hospital for Sick Children; Department of Paediatrics (Costain, Cohn), University of Toronto; Genetics and Genome Biology (Costain, Cohn, Scherer), SickKids Research Institute; Department of Molecular Genetics (Costain, Cohn, Scherer), University of Toronto; The Centre for Applied Genomics (Scherer, Marshall), The Hospital for Sick Children; Department of Laboratory Medicine and Pathobiology (Marshall), University of Toronto; Genome Diagnostics (Marshall), Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ont.
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  • The Cost not the Soft Sell
    John A Stevens [MD]
    Posted on: 25 October 2021
  • RE: Genome sequencing as a diagnostic test
    Nick Myles [MD]
    Posted on: 25 October 2021
  • Posted on: (25 October 2021)
    Page navigation anchor for The Cost not the Soft Sell
    The Cost not the Soft Sell
    • John A Stevens [MD], General Practice, Self Employed

    "at a similar cost to some advanced imaging tests or to a brief admission to hospital" .... other than a soft sell what does this mean ???? We are all educated professionals - we can understand cost: benefit ratios, etc.

    Competing Interests: None declared.

    References

    • B2Y 2K6
  • Posted on: (25 October 2021)
    Page navigation anchor for RE: Genome sequencing as a diagnostic test
    RE: Genome sequencing as a diagnostic test
    • Nick Myles [MD], MD pathologists, Providence Healthcare

    The submission would significantly benefit from the explicit inclusion of petential risk of bias.Also, provided that genomic sequencing "as a test" strategy is a linked to existential interests of biomedical industry, it is vitally important to the tax payers and funders of public healthcare system to see the highest level of evidence obtained in at least few well-designer randomized controlled trials rather than in many yet bias-prone observational studies, performed (or backed) by developers of the new gernomic etc tests.

    Competing Interests: None declared.

    References

    • Gregory Costain, Ronald D. Cohn, Stephen W. Scherer, et al. Genome sequencing as a diagnostic test. CMAJ 2021;193:E1626-E1629.
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Canadian Medical Association Journal: 193 (42)
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Vol. 193, Issue 42
25 Oct 2021
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Genome sequencing as a diagnostic test
Gregory Costain, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall
CMAJ Oct 2021, 193 (42) E1626-E1629; DOI: 10.1503/cmaj.210549

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Genome sequencing as a diagnostic test
Gregory Costain, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall
CMAJ Oct 2021, 193 (42) E1626-E1629; DOI: 10.1503/cmaj.210549
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