Philosophy & Technology

, Volume 32, Issue 1, pp 39–55 | Cite as

Between Minimal and Greater Than Minimal Risk: How Research Participants and Oncologists Assess Data-Sharing and the Risk of Re-identification in Genomic Research

  • Sebastian Schleidgen
  • Alma Husedzinovic
  • Dominik Ose
  • Christoph Schickhardt
  • Christof von Kalle
  • Eva C. WinklerEmail author
Research Article


Data-sharing among genomic researchers is promoted for its potential to accelerate our understanding of the molecular basis of cancer. However, with genomic data sharing the risks of re-identifying study participants, revealing personal genomic information and data misuse might increase. This study aims at exploring perceptions of patients and physicians in Oncology regarding their assessment of the informational risks resulting from participating in whole genomic research studies in order to improve the informed consent process. For this purpose, we conducted a qualitative focus group study at the National Center for Tumor Diseases (NCT). Patients and oncologists assessed the informational risks either as minimal or as greater than minimal, depending on the context factors of occupational status, age, and patients’ prognosis. Interestingly, even patients who assumed a greater risk did not refrain from participating in genomic research, provided that certain informational and institutional safeguards are implemented. Moreover, they expected comprehensive disclosure of the risks resulting from genomic data sharing. These results suggest (1) comprehensive disclosure of the risks of genomic research to potential study participants in genomic research to facilitate risk assessment and sound decision making, (2) establishing independent governance entities in order to minimize the informational risks of genomic research, and (3) implementing data sharing policies which offer guidance for physicians and researchers involved in genomic research.


Genomic research Data sharing Risk of re-identification Data misuse Risk assessment Policy making 



We thank the DKFZ-Heidelberg Center for Personalized Oncology (DKFZ-HIPO) for the technical support and funding through HIPO_008, Simone Dippel for translating the interview passages quoted above, and three anonymous reviewers for their valuable comments on an earlier version of this paper.


  1. Bernabe, R. D., van Thiel, G. J., Raaijmakers, J. A., van Delden, J. J. (2012). The risk-benefit task of research ethics committees: An evaluation of current approaches and the need to incorporate decision studies methods. BMC Med Ethics, 13(6) doi:  10.1186/1472-6939-13-6.
  2. Cambon-Thomsen, A. (2004). Science and society. The social and ethical issues of post-genomic human biobanks. Nature Reviews. Genetics, 5, 866–873.CrossRefGoogle Scholar
  3. Caulfield, T., McGuire, A. L., Cho, M., Buchanan, J. A., Burgess, M. M., Danilczyk, U., et al. (2008). Research ethics recommendations for whole-genome research: consensus statement. PLoS Biology, 6, e73 Available:
  4. Chin, L., & Gray, J. W. (2008). Translating insights from the cancer genome into clinical practice. Nature, 452, 553–563.CrossRefGoogle Scholar
  5. Erlich, Y., & Narayanan, A. (2014). Routes for breaching and protecting genetic privacy. Nature Reviews. Genetics, 15, 409–421.CrossRefGoogle Scholar
  6. EURAT (2013). Cornerstones for an ethically and legally informed practice of whole genome sequencing: Code of Conduct and Patient Consent Models. Available:
  7. Fullerton, S. M., Anderson, N. R., Guzauskas, G., Freeman, D., & Fryer-Edwards, K. (2010). Meeting the governance challenges of next-generation biorepository research. Science Translational Medicine, 2, 15cm3 Available:
  8. Garraway, L. A., & Lander, E. S. (2013). Lessons from the cancer genome. Cell, 153, 17–37.CrossRefGoogle Scholar
  9. Given, L. M. (2008). The sage encyclopedia of qualitative research methods (Vol. 2). Thousand Oaks: Sage.CrossRefGoogle Scholar
  10. Greely, H. T. (2007). The uneasy ethical and legal underpinnings of large-scale genomic biobanks. Ann rev Genom hum G., 8, 343–364.CrossRefGoogle Scholar
  11. Greenbaum D, Sboner A, Mu, XJ, Gerstein M. Genomics and privacy: implications of the new reality of closed data for the field. PLoS Computational Biology 2011;7: e1002278. Available:
  12. Gymrek, M., McGuire, A. L., Golan, D., Halperin, E., & Erlich, Y. (2013). Identifying personal genomes by surname inference. Science, 339, 321–324.CrossRefGoogle Scholar
  13. Haga, S. B., & O'Daniel, J. (2011). Public perspectives regarding data-sharing practices in genomics research. Public Health Genomi., 14, 319–324.CrossRefGoogle Scholar
  14. Heeney, C., Hawkins, N., de Vries, J., Boddington, P., & Kaye, J. (2011). Assessing the privacy risks of data sharing in genomics. Public Health Genomi., 14, 17–25.CrossRefGoogle Scholar
  15. Henderson, G. E. (2011). Is informed consent broken? The American Journal of the Medical Sciences, 342, 267–272.CrossRefGoogle Scholar
  16. Hey, S. P., & Kimmelman, J. (2016). Do we know whether researchers and reviewers are estimating risk and benefit accurately? Bioethics, 30, 609–617.CrossRefGoogle Scholar
  17. Hull, S. C., Sharp, R. R., Botkin, J. R., Brown, M., Hughes, M., Sugarman, J., & Wilfond, B. S. (2008). Patients’ views on identifiability of samples and informed consent for genetic research. American Journal of Bioethics, 8, 62–70.CrossRefGoogle Scholar
  18. Kaphingst, K. A., Janoff, J. M., Harris, L. N., & Emmons, K. M. (2006). Views of female breast cancer patients who donated biologic samples regarding storage and use of samples for genetic research. Clinical Genetics, 69, 393–398.CrossRefGoogle Scholar
  19. Kaufman, D. J., Murphy-Bollinger, J., Scott, J., & Hudson, K. L. (2009). Public opinion about the importance of privacy in biobank research. American Journal of Human Genetics, 85, 643–654.CrossRefGoogle Scholar
  20. Kaye, J. (2012). The tension between data sharing and the protection of privacy in genomics research. Annu rev Genom hum G., 13, 415–431.CrossRefGoogle Scholar
  21. Kettis-Lindblad, A., Ring, L., Viberth, E., & Hansson, M. G. (2006). Genetic research and donation of tissue samples to biobanks. What do potential sample donors in the Swedish general public think? European Journal of Public Health, 16, 433–440.CrossRefGoogle Scholar
  22. Knoppers, B. M., Harris, J. R., Burton, P. R., Murtagh, M., Cox, D., Deschenes, M., et al. (2011a). From genomic databases to translation: A call to action. Journal of Medical Ethics, 37, 515–516.CrossRefGoogle Scholar
  23. Knoppers, B. M., Harris, J. R., Tasse, A. M., Budin-Ljosne, I., Kaye, J., Deschenes, M., et al. (2011b). Towards a data sharing code of conduct for international genomic research. Genome Medicine, 3, 46 Available:
  24. Knoppers, B. M., Harris, J. R., Budin-Ljosne, I., & Dove, E. S. (2014). A human rights approach to an international code of conduct for genomic and clinical data sharing. Human Genetics, 133, 895–903.CrossRefGoogle Scholar
  25. Lee, C. I., Bassett, L. W., Leng, M., Maliski, S. L., Pezeshki, B. B., Wells, C. J., et al. (2012). Patients’ willingness to participate in a breast cancer biobank at screening mammogram. Breast Cancer res Tr., 136, 899–906.CrossRefGoogle Scholar
  26. Lemke, A. A., Wolf, W. A., Hebert-Beirne, J., & Smith, M. E. (2010). Public and biobank participant attitudes toward genetic research participation and data sharing. Public Health Genomi., 13, 368–377.CrossRefGoogle Scholar
  27. Lemke, A. A., Halverson, C., & Ross, L. F. (2012). Biobank participation and returning research results: perspectives from a deliberative engagement in south side Chicago. American Journal of Medical Genetics, 158A, 1029–1037.CrossRefGoogle Scholar
  28. Lindlof, T. R., & Taylor, B. C. (2002). Qualitative communication research methods. Thousand Oaks: Sage.Google Scholar
  29. Mayring, P. (2003). Qualitative inhaltsanalyse. Beltz: Weinheim.Google Scholar
  30. McGuire, A. L., Caulfield, T., & Cho, M. K. (2008a). Research ethics and the challenge of whole-genome sequencing. Nature Reviews. Genetics, 9, 152–156.CrossRefGoogle Scholar
  31. McGuire, A. L., Hamilton, J. A., Lunstroth, R., McCullough, L. B., & Goldman, A. (2008b). DNA data sharing: research participants’ perspectives. Genetics in Medicine, 10, 46–53.CrossRefGoogle Scholar
  32. McGuire, A. L., Oliver, J. M., Slashinski, M. J., Graves, J. L., Wang, T., Kelly, P. A., et al. (2011). To share or not to share: a randomized trial of consent for data sharing in genome research. Genetics in Medicine, 13, 948–955.CrossRefGoogle Scholar
  33. Milius, D., Dove, E. S., Chalmers, D., Dyke, S. O., Kato, K., Nicolás, P., et al. (2014). The international cancer genome consortium’s evolving data-protection policies. Nature Biotechnology, 32, 519–523.CrossRefGoogle Scholar
  34. Mühlbacher, A. C., & Juhnke, C. (2013). Patient preferences versus physicians’ judgement: does it make a difference in healthcare decision making? Applied Health Economics and Health Policy, 11, 163–180.CrossRefGoogle Scholar
  35. Murphy, J., Scott, J., Kaufman, D., Geller, G., LeRoy, L., & Hudson, K. (2009). Public perspectives on informed consent for biobanking. American Journal of Public Health, 99, 2128–2134.CrossRefGoogle Scholar
  36. Nobile, H., Vermeulen, E., Thys, K., Bergmann, M. M., & Borry, P. (2013). Why do participants enroll in population biobank studies? A systematic literature review. Expert Review of Molecular Diagnostics, 13, 35–47.CrossRefGoogle Scholar
  37. Pentz, R. D., Billot, L., & Wendler, D. (2006). Research on stored biological samples: views of African American and White American cancer patients. American Journal of Medical Genetics, 140A, 733–739.CrossRefGoogle Scholar
  38. Pullman, D., Etchegary, H., Gallagher, K., Hodgkinson, K., Keough, M., Morgan, D., et al. (2012). Personal privacy, public benefits, and biobanks: a conjoint analysis of policy priorities and public perceptions. Genetics in Medicine, 14, 229–235.CrossRefGoogle Scholar
  39. Rid, A., & Wendler, D. (2011). A framework for risk-benefit evaluations in biomedical research. Kennedy Inst Ethic J., 21, 141–179.CrossRefGoogle Scholar
  40. Robinson, J. O., Slashinski, M. J., Wang, T., Hilsenbeck, S. G., & McGuire, A. L. (2013). Participants’ recall and understanding of genomic research and large-scale data sharing. Journal of Empirical Research on Human Research Ethics, 8, 42–52.CrossRefGoogle Scholar
  41. Rothstein, M. A. (2005). Expanding the ethical analysis of biobanks. The Journal of law, Medicine & Ethics, 33, 89–101.CrossRefGoogle Scholar
  42. Sandelowski, M. (2000). Whatever happened to qualititative description? Research in Nursing & Health, 23, 334–340.CrossRefGoogle Scholar
  43. Shabani, M., Dyke, S. O. M., Joly, Y., & Borry, P. (2015). Controlled access under review: improving the governance of genomic data access. PLoS Biology, 13, e1002339 Available:
  44. Stratton, M. R., Campbell, P. J., & Futreal, P. A. (2009). The cancer genome. Nature, 458, 719–724.CrossRefGoogle Scholar
  45. Tabor, H. K., Berkman, B. E., Hull, S. C., & Bamshad, M. J. (2011). Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. American Journal of Medical Genetics, 155, 2916–2924.CrossRefGoogle Scholar
  46. Tabor, H. K., Stock, J., Brazg, T., McMillin, M. J., Dent, K. M., Yu, J. H., et al. (2012). Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. American Journal of Medical Genetics, 158A, 1310–1319.CrossRefGoogle Scholar
  47. Trinidad, S. B., Fullerton, S. M., Bares, J. M., Jarvik, G. P., Larson, E. B., & Burke, W. (2010). Genomic research and wide data sharing: views of prospective participants. Genetics in Medicine, 12, 486–495.CrossRefGoogle Scholar
  48. US Department of Health and Services. Code of Federal Regulations [CFR] (2009). Available:

Copyright information

© Springer Science+Business Media Dordrecht 2017

Authors and Affiliations

  1. 1.Department of Nursing ScienceUniversity of Philosophy and TheologyVallendarGermany
  2. 2.Department of Medical Oncology, Programme for Ethics and Patient-Oriented Care in Oncology, National Center for Tumor Diseases (NCT)Heidelberg University HospitalHeidelbergGermany
  3. 3.Department of Population Health Sciences, School of MedicineUniversity of UtahSalt Lake CityUSA
  4. 4.Department of Translational Oncology, National Center for Tumor Diseases (NCT)Heidelberg University HospitalHeidelbergGermany
  5. 5.Heidelberg Center for Personalized Oncology, DKFZ-HIPO, German Cancer Research Center (DKFZ)HeidelbergGermany

Personalised recommendations