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Ethical Issues in Clinical Genetics and Genomics

  • Henry T. Greely
Chapter

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.

Keywords

Genetic Testing Genetic Counselor Lynch Syndrome Genomic Test Genetic Discrimination 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 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. 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. 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.
  4. 4.
    Ashley EA et al. Clinical assessment incorporating a personal genome. Lancet. 2010;375:1525–35.PubMedCrossRefPubMedCentralGoogle Scholar
  5. 5.
    Association for Molecular Pathology v. Myriad Genetics, Inc. 2013. _U.S. __, 133 S.Ct. 1958.Google Scholar
  6. 6.
    Biesecker LG. Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project. Genet Med. 2012;14:393–8.PubMedCrossRefPubMedCentralGoogle Scholar
  7. 7.
    Clayton EW et al. Managing incidental genomic findings: legal obligations of clinicians. Genet Med. 2013;15:624–9.PubMedCrossRefPubMedCentralGoogle Scholar
  8. 8.
    DNA DTC. Products. 2013. http://www.dnadtc.com/. Accessed 2 Sept 2013.
  9. 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. 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. 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. 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
  13. 13.
    Greely HT. “Genotype Discrimination”: the complex case for some legislative protection. Univ PA Law Rev. 2001;149:1483–505.PubMedCrossRefGoogle Scholar
  14. 14.
    Greely HT. Human genomics research: new challenges for research ethics. Perspect Biol Med. 2001;44(2):221–9.PubMedCrossRefGoogle Scholar
  15. 15.
    Greely HT. The uneasy ethical and legal underpinnings of large-scale genomic biobanks. Annu Rev Genomics Hum Genet. 2007;8:343–64.PubMedCrossRefGoogle Scholar
  16. 16.
    Greely HT. Testing infant destinies. Nature. 2012;492:192.CrossRefGoogle Scholar
  17. 17.
    Green RC et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15:565–74.PubMedCrossRefPubMedCentralGoogle Scholar
  18. 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
  19. 19.
    Hayden EC. Geneticists push for global data sharing. Nature. 2013;498:16–7.PubMedGoogle Scholar
  20. 20.
    Lam HY et al. Performance comparison of whole genome sequencing platforms. Nat Biotech. 2012;30:78–82.CrossRefGoogle Scholar
  21. 21.
    Manolio TA et al. Implementing genomic medicine in the clinic: the future is here. Genet Med. 2013;15(4):258–67.PubMedCrossRefPubMedCentralGoogle Scholar
  22. 22.
    Mayer AN et al. A timely arrival for genomic medicine. Genet Med. 2011;13:195–6.PubMedCrossRefGoogle Scholar
  23. 23.
    McGuire AL et al. Ethics and genomic incidental findings. Science. 2013;340:1047–8.PubMedCrossRefPubMedCentralGoogle Scholar
  24. 24.
    Ng PC et al. An agenda for personalized medicine. Nature. 2009;461:724–6.PubMedCrossRefGoogle Scholar
  25. 25.
    Ormond KE et al. Challenges in the clinical application of whole-genome sequencing. Lancet. 2010;375:1749–51.PubMedCrossRefGoogle Scholar
  26. 26.
    Ross LF et al. Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med. 2013;15:234–45.PubMedCrossRefGoogle Scholar
  27. 27.
    Schrijver I et al. Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the association for molecular pathology. J Mol Diagn. 2012;15:525–40.CrossRefGoogle Scholar
  28. 28.
    Timmermans S, Buchbinder M. Saving babies?: the consequences of newborn screening. Chicago: University of Chicago Press; 2012.CrossRefGoogle Scholar
  29. 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
  30. 30.
    Wolf SM et al. Patient autonomy and incidental findings in clinical genomics. Science. 2013;340:1049–50.PubMedCrossRefPubMedCentralGoogle Scholar
  31. 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.

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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