Ethical Issues in Clinical Genetics and Genomics
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.
KeywordsMarketing Dispatch Clarification Verse Concession
- 1.Am College Med Genet (2008) ACMG statement on direct-to-consumer genetic testing. https://www.acmg.net/docs/ACMG_Statement_on_DTC_4.07.08.pdf
- 2.Am College Med Genet (2012) Points to consider in the clinical application of genomic sequencing. http://www.acmg.net/StaticContent/PPG/Clinical_Application_of_Genomic_Sequencing.pdf. Accessed 5 Jul 2013
- 3.Am College Med Genet (2013) Incidental findings in clinical genomics: a clarification.www.acmg.net/docs/Incidental_Findings_in_Clinical_Genomics_A_Clarification.pdf. Accessed 5 Jul 2013.
- 5.Association for Molecular Pathology v. Myriad Genetics, Inc. 2013. _U.S. __, 133 S.Ct. 1958.Google Scholar
- 8.DNA DTC. Products. 2013. http://www.dnadtc.com/. Accessed 2 Sept 2013.
- 9.Genome Web. Lab group submits citizen petition against FDA regulation of lab developed tests. 2013. http://www.genomeweb.com/print/1237821?hq_e=el&hq_m=1588054&hq_l=1&hq_v=162223e076. Accessed 24 Aug 2013.
- 10.Genome Web. Members of Congress Urge Obama Administration to Release FDA Draft Guidance on LDT Regulation. 2013. http://www.genomeweb.com/clinical-genomics/members-congress-urge-obama-administration-release-fda-draft-guidance-ldt-regula. Accessed 24 Aug 2013.
- 11.Global Alliance. Creating a global alliance to enable responsible sharing of genomic and clinical data. 2013. http://www.broadinstitute.org/news/globalalliance. Accessed 2 Sept 2013.
- 12.Government Accountability Office. Direct-to-consumer genetic tests: misleading test results are further complicated by deceptive marketing and other questionable practices. Washington, DC: GAO; 2010.Google Scholar
- 18.Green RC et al. Clinical genome sequencing. In: Ginsburg G, Willard H, editors. Genomic and personalized medicine. 2nd ed. San Diego: Elsevier; 2013. p.102–22.Google Scholar
- 29.van El CG et al. Whole-genome sequencing in health care: recommendations of the European Society of human genetics. Euro J Hum Gen. 2013;21:580–4.Google Scholar
- 31.Zettler PJ et al. 23andMe, the Food and Drug Administration, and the future of genetic testing. JAMA. 2014;174(4):493–4. doi: 10.1001/jamainternmed.2013.14706.