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Ethical Issues in Clinical Genetics and Genomics

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Genomic Applications in Pathology

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 40 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, that do not provide information about only 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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Editor information

Editors and Affiliations

  1. Departments of Pathology, Oncology and Urology, Johns Hopkins University, Baltimore, Maryland, USA

    George Jabboure Netto

  2. Department of Pathology, Stanford University School of Medicine, Stanford, California, USA

    Iris Schrijver

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Greely, H.T. (2015). Ethical Issues in Clinical Genetics and Genomics. In: Netto, G., Schrijver, I. (eds) Genomic Applications in Pathology. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-0727-4_11

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  • DOI: https://doi.org/10.1007/978-1-4939-0727-4_11

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-0726-7

  • Online ISBN: 978-1-4939-0727-4

  • eBook Packages: MedicineMedicine (R0)

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