Biobanks: Importance, Implications and Opportunities for Genetic Counselors

Abstract

Biobanks are collections of human biological tissue specimens and related health data. Biobank research hopes to provide novel insights into the genetic component of disease, ultimately leading to a more personalized approach to healthcare. However, biobanks have sparked debate due to the ethical, legal, and social implications surrounding utilization of population samples and data. These controversies include issues of consent, privacy and confidentiality, return of results and data-sharing. This paper provides an overview of the different types and scope of biobanks and an examination of the most pertinent ethical, legal and social considerations surrounding such research, as well as how some of these concerns are being addressed. The paper finishes with a discussion of the relevance of biobanks to the genetic counseling field and concludes that genetic counselors are in a position to make a unique, educated and practical contribution to the ongoing dialogue and direction of biobank research.

This is a preview of subscription content, log in to check access.

References

  1. Anderlik, M. (2003). Commercial biobanks and genetic research: ethical and legal issues. American Journal of Pharmacogenomics, 3(3), 203–215.

    PubMed  Article  Google Scholar 

  2. Austin, M., Harding, S., & McElroy, C. (2003a). Genebanks: a comparison of eight proposed international genetic databases. Community Genet, 6(1), 37–45.

    PubMed  Google Scholar 

  3. Austin, M., Harding, S., & McElroy, C. (2003b). Monitoring ethical, legal, and social issues in developing population genetic databases. Genetics in medicine, 5(6), 451.

    PubMed  Article  Google Scholar 

  4. Australian Law Reform Commission. (2003). Essentially yours: The protection of human genetic information in Australia. Executive Summary Retrieved Jan 20th, 2010, from https://doi.org/www.austlii.edu.au/au/other/alrc/publications/reports/96/.

  5. Avard, D., & Knoppers, B. (2009). Genomic medicine: considerations for health professionals and the public. Genome Medicine, 1(2), 25.

    PubMed  PubMed Central  Article  Google Scholar 

  6. Avard, D., Bucci, L., Burgess, M., Kaye, J., Heeney, C., Farmer, Y., et al. (2009). Public health genomics (PHG) and public participation: points to consider. Journal of Public Deliberation, 5(1), 1–21.

    Google Scholar 

  7. Barr, M. (2006). I’m not really read up on genetics: biobanks and the social context of informed consent. Biosocieties, 1, 251–262.

    Article  Google Scholar 

  8. Bogert, G. G., & Bogert, G. T. (1992). The law of trusts and trustees. St. Paul: West.

    Google Scholar 

  9. Boulton, M., & Parker, M. (2007). Informed consent in a changing environment. Social Science & Medicine, 65(11), 2187–2198.

    Article  Google Scholar 

  10. Brand, A. M., & Probst-Hensch, N. M. (2007). Biobanking for epidemiological research and public health. Pathobiology, 74, 227–238.

    PubMed  Article  Google Scholar 

  11. Brekke, O., & Sirnes, T. (2006). Population biobanks: the ethical gravity of informed consent. BioSocieties, 1, 385–398.

    Article  Google Scholar 

  12. Busby, H. (2006). Biobanks, bioethics and concepts of donated blood in the UK. Sociology of Health and Illness, 28, 850–865.

    PubMed  Article  Google Scholar 

  13. Cambon-Thomsen, A. (2004). The social and ethical issues of post-genomic human biobanks. Nature Genetics, 5, 866–873.

    CAS  Article  Google Scholar 

  14. Cambon-Thomsen, A., Sallée, C., Rial-Sebbag, E., & Knoppers, B. (2005). Populational genetic databases is a specific ethical and legal framework necessary? GenEdit, 3(1), 1–13.

    Google Scholar 

  15. Cambon-Thomsen, A., Rial-Sebbag, E., & Knoppers, B. (2007). Trends in ethical and legal frameworks for the use of human biobanks. European Respiratory Journal, 30, 373–382.

    CAS  PubMed  Article  Google Scholar 

  16. Caulfield, T., & Ries, N. (2003). Consent, privacy and confidentiality in longitudinal, population health research: the Canadian legal context. Health Law Journal, 11, 1.

    Google Scholar 

  17. Caulfield, T., Upshur, R., & Daar, A. (2003). DNA databanks and consent: a suggested policy option involving an authorization model. BMC Medical Ethics, 4(1), 1–4.

    PubMed Central  Article  Google Scholar 

  18. Caulfield, T., McGuire, A., Cho, M., Buchanan, J., Burgess, M., Danilczyk, U., et al. (2008). Research Ethics recommendations for whole-genome research: consensus statement. PLoS Biology, 6(3), 73.

    Article  CAS  Google Scholar 

  19. CDC. (2007). 10 years of public health genomics at CDC 1997–2007. Retrieved Jan 13th, 2010, from https://doi.org/www.cdc.gov/genomics/about/reports/2007/index.htm.

  20. Elger, B., & Caplan, A. (2006). Consent and anonymization in research involving biobanks: differing terms and norms present serious barriers to an international framework. EMBO reports, 7(7), 661–666.

    CAS  PubMed  PubMed Central  Article  Google Scholar 

  21. Eriksson, S., & Helgesson, G. (2005). Potential harms, anonymization, and the right to withdraw consent to biobank research. European Journal of Human Genetics, 13(9), 1071–1076.

    PubMed  Article  Google Scholar 

  22. Foltz, F. (1999). Five arguments for increasing public participation in making science policy. Bulletin of Science, Technology and Society, 19(2), 117–127.

    Article  Google Scholar 

  23. Genetic Alliance BioBank: Executive Summary. (2010). Retrieved Jan 15, 2010, from https://doi.org/www.biobank.org/english/view.asp?x=1364&id=76.

  24. Gottweis, H., & Petersen, A. (Eds.). (2008). Biobanks: Governance in comparative perspective. New York: Routledge.

    Google Scholar 

  25. Greely, H. T. (2007). The uneasy ethical and legal underpinnings of large-scale genomic biobanks. Annual Review of Genomics and Human Genetics, 8, 343–364.

    CAS  PubMed  Article  Google Scholar 

  26. Haga, S. B., & Beskow, L. M. (2008). Ethical, legal, and social implications of biobanks for genetics research. Advances in Genetics, 60, 505–544.

    PubMed  Article  Google Scholar 

  27. Hansson, M. G. (2009). Ethics and biobanks. British Journal of Cancer, 100(1), 8–12.

    CAS  PubMed  Article  Google Scholar 

  28. Hansson, M. G., Dillner, J., Bartram, C. R., Carlson, J. A., & Helgesson, G. (2006). Should donors be allowed to give broad consent to future biobank research? Lancet Oncology, 7(3), 266–269.

    PubMed  Article  Google Scholar 

  29. Hoffman, B. (2009). Broadening consent and diluting ethics? Journal of Medical Ethics, 35, 125–129.

    Article  Google Scholar 

  30. Homer, N., Szelinger, S., Redman, M., Duggan, D., Tembe, W., Muehling, J., et al. (2008). Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. PLoS Genetics, 4(8), e1000167.

    PubMed  PubMed Central  Article  CAS  Google Scholar 

  31. Irwin, A. (2001). Constructing the scientific citizen: science and democracy in the biosciences. Public Understanding of Science, 10(1), 1–18.

    Article  Google Scholar 

  32. Kaiser, J. (2002). Biobanks. Population databases boom, from Iceland to the U.S. Science, 298(5596), 1158–1161.

    CAS  PubMed  Article  Google Scholar 

  33. Kerr, A., Cunningham-Burley, S., & Tutton, R. (2007). Shifting subject positions: experts and lay people in public discourse. Social Studies of Science, 37(3), 385–411.

    Article  Google Scholar 

  34. Khoury, M., Millikan, R., Little, J., & Gwinn, M. (2004). The emergence of epidemiology in the genomics age. International Journal of Epidemiology, 33(5), 936–944.

    PubMed  Article  Google Scholar 

  35. Knoppers, B. (2005). Biobanking: international norms. Journal of Law, Medicine and Ethics, 33, 7–14.

    PubMed  Article  Google Scholar 

  36. Knoppers, B., Joly, Y., Simard, J., & Durocher, F. (2006). The emergence of an ethical duty to disclose genetic research results: international perspectives. European Journal of Human Genetics, 14(11), 1170–1178.

    PubMed  Article  Google Scholar 

  37. Lunshof, J. E., Chadwick, R., Vorhaus, D. B., & Church, G. M. (2008). From genetic privacy to open consent. Nature Reviews. Genetics, 9(5), 406–411.

    CAS  PubMed  Article  Google Scholar 

  38. MacNaghten, P., Kearnes, M. B., & Wynne, B. (2005). Nanotechnology, governance and public deliberation: what role for the social sciences? Science Communication, 27, 268–291.

    Article  Google Scholar 

  39. Maschke, K. J. (2005). Navigating an ethical patchwork–human gene banks. Nature Biotechnology, 23(5), 539–545.

    CAS  PubMed  Article  Google Scholar 

  40. McCarty, C., Wilke, R., Giampietro, P., Wesbrook, S., & Caldwell, M. (2005). Marshfield clinic personalized medicine research project (PMRP): design, methods and recruitment for a large population-based biobank. Personalized Medicine, 2(1), 49–79.

    PubMed  Article  Google Scholar 

  41. McCarty, C. A., Chapman-Stone, D., Derfus, T., Giampietro, P. F., & Fost, N. (2009). Community consultation and communication for a population-based DNA biobank: the Marshfield clinic personalized medicine research project. American Journal of Medical Genetics, 146A, 3026–3033.

    Article  Google Scholar 

  42. NSGC. (1983). Genetic counseling as a profession. Retrieved January 19th, 2010, from https://doi.org/www.nsgc.org/career/index.cfm#as_a_profession.

  43. O’Doherty, K., & Burgess, M. (2009). Engaging the public on biobanks: outcomes of the BC biobank deliberation. Public Health Genomics, 12(4), 203–215.

    PubMed  Article  Google Scholar 

  44. O’Doherty, K., & Hawkins, A. (2010). Structuring public engagement for effective input in policy development on human tissue biobanking. Public Health Genomics, 13(4), 197–206.

    PubMed  PubMed Central  Article  Google Scholar 

  45. OECD. (2006). Creation and governance of human genetic research databases.

  46. Park, A. (2009). Ten ideas changing the world right now. Time Magazine: US Edition, 173.

  47. Petersen, A. (2005). Securing our genetic health: engendering trust in UK Biobank. Sociology of Health & Illness, 27(2), 271–292.

    Article  Google Scholar 

  48. Petersen, A. (2007). Biobanks’ “engagements”: engendering trust or engineering consent? Genomics, Society and Policy, 3(1), 31–43.

    Article  Google Scholar 

  49. Pfendner, E. G., Vanakker, O. M., Terry, S. F., Vourthis, S., McAndrew, P. E., McClain, M. R., et al. (2007). Mutation detection in the ABCC6 gene and genotype phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. British Medical Journal, 44(10), 621–628.

    CAS  Google Scholar 

  50. Rose, H. (2006). From hype to mothballs in four years: troubles in the development of large-scale DNA biobanks in Europe. Community Genetics, 9, 184–189.

    PubMed  Google Scholar 

  51. Rotimi, C., Leppert, M., Matsuda, I., Zeng, C., Zhang, H., Adebamowo, C., et al. (2007). Community engagement and informed consent in the International HapMap project. Community Genetics, 10(3), 186–198.

    PubMed  Google Scholar 

  52. Rowe, G., & Frewer, L. J. (2005). A typology of public engagement mechanisms. Science, Technology & Human Values, 30(2), 251–290.

    Article  Google Scholar 

  53. Secko, D. M., Preto, N., Niemeyer, S., & Burgess, M. M. (2009). Informed consent in biobank research: a deliberative approach to the debate. Social Science & Medicine, 68(4), 781–789.

    Article  Google Scholar 

  54. Swede, H., Stone, C., & Norwood, B. (2007). National population-based biobanks for genetic research. Genetics in Medicine, 9(3), 141–149.

    CAS  PubMed  Article  Google Scholar 

  55. Swen, J., Huizinga, T., Gelderblom, H., de Vries, E., Assendelft, W., Kirchheiner, J., et al. (2007). Translating pharmacogenomics: challenges on the road to the clinic. PLoS Medicine, 4(8), 1317–1324.

    Article  Google Scholar 

  56. Tilstone, C. (2006). Further plans announced for national biobanks. Lancet Oncology, 7(3), 195–196.

    PubMed  Article  Google Scholar 

  57. Tutton, R. (2007). Banking expectations: the promises and problems of biobanks. Personalized Medicine, 4(4), 463–469.

    PubMed  Article  Google Scholar 

  58. Tutton, R., & Corrigan, O. (Eds.). (2004). Genetic databases: Socio-ethical issues in the collection and use of DNA. London: Routledge.

    Google Scholar 

  59. UK Biobank. (2009). Improving the health of future generations. Retrieved 15 Jan, 2010, from https://doi.org/www.ukbiobank.ac.uk/.

  60. Watson, P. H., Wilson-McManus, J. E., Barnes, R. O., Giesz, S. C., Png, A., Hegele, R. G., et al. (2009). Evolutionary concepts in biobanking—the BC BioLibrary. Journal of translational medicine, 7(1), 95.

    PubMed  PubMed Central  Article  Google Scholar 

  61. Williams-Jones, B., & Burgess, M. (2006). Democratising access to genetic services. Familial Cancer, 5(2), 117–121.

    PubMed  Article  Google Scholar 

  62. Winickoff, D. (2006). Genome and nation: Iceland’s health sector database and its legacy. Innovations: Technology, Governance, Globalization, 1(2), 80–105.

    Article  Google Scholar 

  63. Winickoff, D., & Winickoff, R. (2003). The charitable trust as a model for genomic biobanks. New England Journal of Medicine, 12, 1180–1184.

    Article  Google Scholar 

  64. Yuille, M., van Ommen, G. J., Brechot, C., Cambon-Thomsen, A., Dagher, G., Landegren, U., et al. (2007). Biobanking for Europe. Briefings in bioinformatics, 9, 14–24.

    PubMed  Article  Google Scholar 

Download references

Acknowledgements

The author wishes to thank Professor Michael Burgess at UBC for introducing her to the complexities of biobank research, as well as Ushta Canteenwalla and the two anonymous reviewers for their comments and suggestions on previous versions of this manuscript.

Author information

Affiliations

Authors

Corresponding author

Correspondence to Alice K. Hawkins.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Hawkins, A.K. Biobanks: Importance, Implications and Opportunities for Genetic Counselors. J Genet Counsel 19, 423–429 (2010). https://doi.org/10.1007/s10897-010-9305-1

Download citation

Keywords

  • Biobanks
  • Ethics
  • Genetic counseling
  • Advocacy