Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Science and Society
  • Published:

Research ethics and the challenge of whole-genome sequencing

Abstract

The recent completion of the first two individual whole-genome sequences is a research milestone. As personal genome research advances, investigators and international research bodies must ensure ethical research conduct. We identify three major ethical considerations that have been implicated in whole-genome research: the return of research results to participants; the obligations, if any, that are owed to participants' relatives; and the future use of samples and data taken for whole-genome sequencing. Although the issues are not new, we discuss their implications for personal genomics and provide recommendations for appropriate management in the context of research involving individual whole-genome sequencing.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

References

  1. Dizikes, P. Gene information opens new frontier in privacy debate. Boston Globe (24 September 2007) [online], (2007).

    Google Scholar 

  2. Levy, S. et al. The diploid genome sequence of an individual human. PLoS Biol. 5, e254 (2007).

    Article  PubMed  PubMed Central  Google Scholar 

  3. McGuire, A. L., Cho, M. K., McGuire, S. E. & Caulfield, T. The future of personal genomics. Science 317, 1687 (2007).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Burke, W. & Psaty, B. M. Personalized medicine in the era of genomics. JAMA 298, 1682–1684 (2007).

    Article  CAS  PubMed  Google Scholar 

  5. Andrews L. B., Fullarton J. E., Holtzman N. A. & Motulsky A. G. (eds) Assessing Genetic Risks: Implications for Health and Social Policy (National Academy Press, Washington DC, 1994).

    Google Scholar 

  6. Rothstein, M. A. & Anderlik, M. R. What is genetic discrimination, and when and how can it be prevented? Genet. Med. 3, 354–358 (2001).

    Article  CAS  PubMed  Google Scholar 

  7. Clayton, E. W. Ethical, legal and social implications of genomic medicine. New Engl. J. Med. 349, 562–569 (2003).

    Article  PubMed  Google Scholar 

  8. The Genome 10. Boston Globe (24 September 2007) [online], (2007).

  9. Check, E. Celebrity genomes alarm researchers. Nature 447, 358–359 (2007).

    Article  CAS  PubMed  Google Scholar 

  10. Ravitsky, V. & Wilfond, B. Disclosing individual genetic results to research participants. Am. J. Bioeth. 6, 8–17 (2006).

    Article  PubMed  Google Scholar 

  11. Johnston, C. & Kaye, J. Does the UK biobank have a legal obligation to feedback individual findings to participants? Med. Law Rev. 12, 239–267 (2004).

    Article  Google Scholar 

  12. G. Renegar et al. Returning genetic research results to individuals: points to consider. Bioethics 20, 24–36 (2006).

    Article  Google Scholar 

  13. Knoppers, B. M., Joly, Y., Simard, J. & Durocher F. The emergence of an ethical duty to disclose genetic research results: international perspectives. Eur. J. Hum. Genet. 14, 1170–1178 (2006).

    Article  PubMed  Google Scholar 

  14. MacNeil, S. & Fernandez, C. Informing research participants of research results: analysis of Canadian university based research ethics board policies. J. Med. Ethics 32, 49–54 (2006).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Kohane, I. S. et al. Reestablishing the researcher–patient compact. Science 316, 836–837 (2007).

    Article  CAS  PubMed  Google Scholar 

  16. Robertson, J. A. The $1000 genome: Ethical and legal issues in whole genome sequencing of individual. Am. J. Bioeth. 3, W-IF1 (2003).

    Article  PubMed  Google Scholar 

  17. Abraham, C. This human's life, decoded. Globe and Mail A1 (4 September 2007) [online], (2007).

    Google Scholar 

  18. Pollack A. A genetic test that very few need, marketed to the masses. New York Times (11 September 2007) [online], (2007).

    Google Scholar 

  19. Wendler, D. & Emanuel, E. The debate over research on stored biological samples: what do sources think? Arch. Intern. Med. 162, 1457–1462 (2002).

    Article  PubMed  Google Scholar 

  20. Fernandez, C. V. et al. The return of research results to participants: pilot questionnaire of adolescents and parents of children with cancer. Pediatr. Blood Cancer 48, 441–446 (2007).

    Article  CAS  PubMed  Google Scholar 

  21. US Department of Health and Human Services (HHS), Centers for Medicare and Medicare Services (CMS). Clinical Laboratory Improvement Amendments (CLIA) [online], (2007).

  22. Guttmacher, A. E., Porteous, M. E. & McInerney, J. D. Educating health-care professionals about genetics and genomics. Nature Rev. Genet. 8, 151–157 (2007).

    Article  CAS  PubMed  Google Scholar 

  23. Baars, M. J., Henneman, L. & Ten Kate L. P. Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genet. Med. 7, 605–610 (2005).

    Article  PubMed  Google Scholar 

  24. United States Department of Health and Human Services. Personalized Health Care: Opportunities, Pathways, Resources [online], (2007).

  25. Genetic Information Nondiscrimination Act of 2007, H. R. 493. Placed on Senate Legislative Calendar under General Orders. Calendar No. 125.

  26. Hudson, K. L. Prohibiting genetic discrimination. New Eng. J. Med. 356, 2021–2023 (2007).

    Article  CAS  PubMed  Google Scholar 

  27. Bieber, F., Brenner, C. & Lazer, D. Finding criminals through DNA of their relatives. Science 312, 1315–1316 (2006).

    Article  CAS  PubMed  Google Scholar 

  28. Protection of Human Subjects, 45 CFR § 46 [online], (2005).

  29. US Department of Health and Human Services (HHS), Office of Human Research Protection (OHRP). Guidance on Research Involving Coded Private Information or Biological Specimens [online], (2004)

  30. Lin, Z., Owen, A. B. & Altman, R. B. Genetics. Genomic research and human subject privacy. Science 305, 183 (2004).

    Article  CAS  PubMed  Google Scholar 

  31. McGuire, A. L. & Gibbs, R. A. Currents in contemporary ethics: meeting the growing demands of genetic research. J. Law Med. Ethics 34, 809–812 (2006).

    Article  PubMed  Google Scholar 

  32. National Institutes of Health. Protection of Third Party Information in Research: Recommendations of the National Institutes of Health to the Office of Human Research Protections [online], (2001).

  33. American Society of Human Genetics. Professional disclosure of familial genetic information. Am. J. Hum. Genet. 63, 898–900 (1998).

  34. Botkin, J. R. Protecting the privacy of family members in survey and pedigree research. JAMA 285, 207–211 (2001).

    Article  CAS  PubMed  Google Scholar 

  35. Cook-Deegan, R. M. Privacy, families, and human subject protections: some lessons from pedigree research. J. Contin. Educ. Health Prof. 21, 224–237 (2001).

    Article  CAS  PubMed  Google Scholar 

  36. Knoppers, B. M. Genetic information and the family: are we our brother's keeper? Trends Biotech. 20, 85–86 (2002).

    Article  CAS  Google Scholar 

  37. National Institutes of Health. Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS), 72 Fed. Reg. 49290 (28 August 2007).

  38. Medical Research Council of Canada. Tri-Council Policy Statement: Ethical Conduct for Research Involving Humans [online], (2003).

  39. Offit, K. et al. The 'duty to warn' a patient's family members about hereditary disease risks. JAMA 292, 1469–1473 (2004).

    Article  CAS  PubMed  Google Scholar 

  40. Wilson, B. J. et al. Family communication about genetic risk: the little that is known. Community Genet. 7, 15–24 (2004).

    PubMed  Google Scholar 

  41. Pate v. Threlkel, 661 So.2d 278 (Fla. 1995) [online], (1995).

  42. Safer v. Estate of Pack, 291 N. J.Super. 619, 677 A.2d 1188 (App.Div.1996) [online], (1996).

  43. Knoppers, B. & Chadwick R. Human genetic research: emerging trends in ethics. Nature Rev. Genet. 6, 75–79 (2005).

    Article  CAS  PubMed  Google Scholar 

  44. The GAIN Collaborative Research Group. New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nature 39, 1049–1051 (2007).

  45. National Human Genome Research Institute (NHGRI). Reaffirmation and Extension of NHGRI Rapid Data Release Policies: Large-scale Sequencing and Other Community Resource Projects [online], (2003)

  46. National Human Genome Research Institute (NHGRI). Sharing Data from Large-scale Biological Research Projects: A System of Tripartite Responsibility. Report of a meeting organized by the Wellcome Trust, Fort Lauderdale, USA (14–15 January 2003) [online], (2003).

  47. Arnason, V. Coding and consent: moral challenges of the database project in Iceland. Bioethics 18, 27–49 (2004).

    Article  PubMed  Google Scholar 

  48. Caulfield, T. Biobanks and blanket consent: the proper place of the public perception and public good rationales. King's Law J. 18, 209–226 (2007).

    Article  Google Scholar 

  49. The International HapMap Consortium. Integrating ethics and science in the International HapMap Project. Nature Rev. Genet. 5, 467–475 (2004).

  50. Greely, H. Breaking the stalemate: a prospective regulatory framework for unforeseen research uses of human tissue samples and health information. Wake Forest L. Rev. 34, 737–766 (1999).

    CAS  Google Scholar 

  51. Elger, B. & Caplan A. Consent and anonymization in research involving biobanks. EMBO Reports 7, 661 (2006). at 663.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  52. Editorial. Striking the right balance between privacy and the public good. Lancet 367, 275 (2006).

  53. World Health Organization, Genetic Databases: Assessing the Benefits and Impact on Human and Patient Rights [online], (2003).

Download references

Acknowledgements

Research is supported by the Greenwall Foundation Faculty Scholars Program, The Gillson Logenbaugh Foundation and The ARCO Foundation Young Teacher–Investigator Award, Genome Alberta, the Ethical, Legal, and Social Implications (ELSI) Research Program, Genome Canada, Alberta Heritage Foundation for Medical Research, National Human Genome Research Institute (NHGRI-ELSI) and US National Insitutes of Health grants R01HG004333 and 5P50HG003389. Thanks to A. Adair.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Timothy Caulfield.

Related links

Related links

FURTHER INFORMATION

Timothy Caulfield's homepage

23andMe

National Human Genome Project

International HapMap Project

Us Secretary's Advisory Committee on Genetics, Health, and society

Rights and permissions

Reprints and permissions

About this article

Cite this article

McGuire, A., Caulfield, T. & Cho, M. Research ethics and the challenge of whole-genome sequencing. Nat Rev Genet 9, 152–156 (2008). https://doi.org/10.1038/nrg2302

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/nrg2302

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing