Ethical Issues in Clinical Genetics and Genomics

  • Henry T. GreelyEmail author


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.


Genetic testing Genome-wide association studies GWAS Single nucleotide polymorphisms SNP Whole-genome sequencing WGS Whole-exome sequencing WXS WES Food and Drug Administration FDA Laboratory-developed tests LDT Medical devices Tests Regulation Ethics 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Center for Law and the BiosciencesStanford UniversityStanfordUSA

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