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Genomic Applications in Pathology pp 135–146Cite as

Ethical Issues in Clinical Genetics and Genomics

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Abstract

This chapter sets out crucial ethical and legal issues raised both by existing targeted genetic testing and, more importantly, by the rising tide of broader genomic tests, such as whole-genome sequencing (WGS). Clinical genetic testing has been available for over 45 years, but not all the concerns have been resolved. The chapter discusses those concerns in traditional targeted testing in five categories: the decision whether to test, the tests’ accuracy, conveying the results to patients, direct-to-consumer testing, and a variety of other concerns. It then discusses intermediate forms of testing, tests such as multiplex tandem mass spectrometry and SNP arrays, which do more than provide information about a handful of genetic variants but also do not provide powerful information about many disease-linked variants. It ends by discussing how WGS and other “broad” tests will greatly exacerbate the ethical and legal problems of existing testing methods, particularly with respect to accuracy, conveying results, and confidentiality.

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Author information

Authors and Affiliations

  1. Center for Law and the Biosciences, Stanford University, Stanford, CA, USA

    Henry T. Greely

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  1. Henry T. Greely
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Correspondence to Henry T. Greely .

Editor information

Editors and Affiliations

  1. Professor and Chair of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA

    George Jabboure Netto

  2. Department of Pathology and Laboratory Medicine, NorthShore University HealthSystem, Clinical Professor of Pathology, University of Chicago Pritzker School of Medicine, Evanston, IL, USA

    Karen L. Kaul

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Greely, H.T. (2019). Ethical Issues in Clinical Genetics and Genomics. In: Netto, G., Kaul, K. (eds) Genomic Applications in Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-96830-8_12

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  • DOI: https://doi.org/10.1007/978-3-319-96830-8_12

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-96829-2

  • Online ISBN: 978-3-319-96830-8

  • eBook Packages: MedicineMedicine (R0)

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