Ethical Issues in Clinical Genetics and Genomics

  • Henry T. Greely


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.


Genetic Testing Genetic Counselor Lynch Syndrome Genomic Test Genetic Discrimination 
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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Henry T. Greely
    • 1
  1. 1.Center for Law and the BiosciencesStanford UniversityStanfordUSA

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