Skip to main content Accessibility help
×
Hostname: page-component-76fb5796d-2lccl Total loading time: 0 Render date: 2024-04-26T14:23:32.520Z Has data issue: false hasContentIssue false

4 - Biobanks and feedback

Published online by Cambridge University Press:  05 September 2014

Kadri Simm
Affiliation:
University of Tartu
Mairi Levitt
Affiliation:
Lancaster University
Darren Shickle
Affiliation:
University of Leeds
Get access

Summary

‘Genes now tell doctors secrets they can’t utter’ was the dramatic title of the New York Times article from August 2012 that described the problem of incidental findings in genetic research. Indeed, the issue of whether or not to disclose significant genetic information to participants of research that generally do not expect it, is a much-discussed topic in medical ethics and genetic journals and has now spilled over into general media. The right to know or not to know discussion in relation to biobank research is now almost entirely dominated by the so-called ‘incidentalome’ debate. Incidental findings are a well-known phenomenon in clinical care where, for example, a radiologist might find something unexpected from an image in addition to the information she was looking for. Genetic research, which is often based on biobank collections, is now similarly faced with such findings when researchers stumble upon DNA information that, while not the aim of the research itself, might be potentially very relevant to the donors. But while it might have been relatively straightforward for the radiologist to contact the patient or patient’s physician regarding incidental finds, the matter is much more complicated for researchers far removed (both institutionally and geographically) from the biological owners of the mostly anonymized samples.

The possibility of disclosing unplanned, unexpected and yet important genetic information to biobank donors raises numerous scientific, ethical, legal and practical issues. Leaving aside the legal aspects, this chapter gives an overview of these challenges and situates the debate within a larger, long-anticipated phenomenon of personalized medicine. I will start by looking back at the debates we had ten to fifteen years ago in relation to biobanks and potential feedback and will then proceed to discuss the recent arguments regarding feedback in the context of population biobanks and other large-scale genomic research.

Type
Chapter
Information
The Right to Know and the Right Not to Know
Genetic Privacy and Responsibility
, pp. 55 - 69
Publisher: Cambridge University Press
Print publication year: 2014

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Abdul-Karim, Ruqayyah, Berkman, Benjamin E., Wendler, David, Rid, Annette, Khan, Javed, Badgett, Tom and Chandros Hull, Sara 2013. ‘Disclosure of incidental findings from next-generation sequencing in pediatric genomic research’, Pediatrics 131: 564–71.CrossRefGoogle ScholarPubMed
Anastasova, Velizara, Mahalatchimy, Aurélie, Rial-Sebbag, Emmanuelle, Antó Boqué, J. M., Keil, Thomas, Sunyer, Jordi, Bosquet, Jean and Cambon-Thomsen, Anne 2013. ‘Communication of results and disclosure of incidental findings in longitudinal paediatric research’, Pediatric Allergy and Immunology 24: 389–94.CrossRefGoogle ScholarPubMed
Berg, Jonathan S., Adams, Michael, Nassar, Nassib, Bizon, Chris, Lee, Kristy, Schmitt, Charles P., Wilhelmsen, Kirk C. and Evans, James P. 2013. ‘An informatics approach to analyzing the incidentalome’, Genetics in Medicine 15: 36–44.CrossRefGoogle ScholarPubMed
Bledsoe, Marianna J., Grizzle, William E., Clark, Brian J. and Zeps, Nikolajs 2012. ‘Practical implementation issues and challenges for biobanks in the return of individual research results’, Genetics in Medicine 14: 478–83.CrossRefGoogle ScholarPubMed
Bloss, Cinnamon S., Ornowski, Laura, Silver, Elana, Cargill, Michele, Vanier, Vance, Schork, Nicholas J. and Topol, Eric J. 2010. ‘Consumer perceptions of direct-to-consumer personalized genomic risk assessments’, Genetics in Medicine 12: 556–66.CrossRefGoogle ScholarPubMed
Bloss, Cinnamon S., Schork, Nicholas J. and Topol, Eric J. 2011. ‘Effect of direct-to-consumer genomewide profiling to assess disease risk’, NEJM 364: 524–34.CrossRefGoogle ScholarPubMed
Boddington, Paula and Gregory, Maggie 2008. ‘Communicating genetic information in the family: Enriching the debate through the notion of integrity’, Med Health Care Philos 11: 445–54.CrossRefGoogle ScholarPubMed
Bovenberg, Jasper, Meulenkamp, Tineke, Smets, Ellen and Gevers, Sjef 2009. ‘Biobank research: Reporting results to individual participants’, European Journal of Health Law 16: 229–47.CrossRefGoogle ScholarPubMed
Bredenoord, Annelien L., Kroes, Hester Y., Cuppen, Edwin, Parker, Michael and van Delden, Johannes J. M. 2011. ‘Disclosure of individual genetic data to research participants: The debate reconsidered’, Trends in Genetics 27: 41–7.CrossRefGoogle ScholarPubMed
Chan, Ben, Facio, Flavia M., Eidem, Haley, Chandros Hull, Sara, Biesecker, Leslie G. and Berkman, Benjamin E. 2012. ‘Genomic inheritances: Disclosing individual research results from whole-exome sequencing to deceased participants’ relatives’, American Journal of Bioethics 12: 1–8.CrossRefGoogle ScholarPubMed
Costain, Gregory and Bassett, Anne S. 2012. ‘The ever-evolving concept of clinical significance and the potential for sins of omission in genetic research’, American Journal of Bioethics 12: 22–4.CrossRefGoogle ScholarPubMed
Darst, Burcu F., Madlensky, Lisa, Schork, Nicholas J., Topol, Eric J. and Bloss, Cinnamon S. 2013. ‘Characteristics of genomic test consumers who spontaneously share results with their health care provider’, Health Communication1–4.Google ScholarPubMed
Estonian Genome Center. Gene Donor Consent Form. Available at: (accessed 19 June 2013).
Faden, Ruth, Kass, Nancy E., Goodman, Steven N., Pronovost, Peter, Tunis, Sean and Beauchamp, Tom L. 2013. ‘An ethics framework for a learning health care system: A departure from traditional research ethics and clinical ethics’, Ethical Oversight of Learning Health Care Systems, Hastings Center Report 43: S16–S27.CrossRefGoogle Scholar
Gilbar, Roy 2007. ‘Communicating genetic information in the family: The familial relationship as the forgotten factor’, J Med Ethics 33: 390–3.CrossRefGoogle ScholarPubMed
Gliwa, Catherine and Berkman, Benjamin E. 2013. ‘Do researchers have an obligation to actively look for genetic incidental findings?’, American Journal of Bioethics 13: 32–42.CrossRefGoogle ScholarPubMed
Green, Robert C., Berg, Jonathan S., Grody, Wayne W., Kalia, Sarah S., Korf, Bruce R., Martin, Christa L., McGuire, Amy L., Nussbaum, Robert L., O’Daniel, Julianne M., Ormond, Kelly E., Rehm, Heidi L., Watson, Michael S., Williams, Marc S. and Biesecker, Leslie G. 2013. ‘ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing’, Genetics in Medicine 15: 565–574.CrossRefGoogle ScholarPubMed
Hansson, Mats G. 2012. ‘Validate DNA-findings before telling donors’, Nature 484: 455.CrossRefGoogle Scholar
Hens, Kristien, Nys, Herman, Cassiman, Jean-Jacques and Dierickx, Kris 2011. ‘The return of individual research findings in paediatric genetic research’, J Med Ethics 37: 179–83.CrossRefGoogle ScholarPubMed
Johnson, Gina, Lawrenz, Frances and Thao, Mao 2012. ‘An empirical examination of the management of return of individual research results and incidental findings in genomic biobanks’, Genetics in Medicine 14: 444–50.CrossRefGoogle ScholarPubMed
Kaye, Jane, Curren, Liam, Anderson, Nick, Edwards, Kelly, Fullerton, Stephanie M., Kanellopoulou, Nadja, Lund, David, MacArthur, Daniel G., Mascalzoni, Deborah, Shepherd, James, Taylor, Patrick L., Terry, Sharon F. and Winter, Stefan F. 2013. ‘From patients to partners: Participant-centric initiatives in biomedical research’, Nature Reviews Genetics 13: 371–6.CrossRefGoogle Scholar
Knoppers, Bartha Maria, Joly, Yann, Simard, Jacques and Durocher, Francine 2006. ‘The emergence of an ethical duty to disclose genetic research results: An international perspective’, European Journal of Human Genetics 14: 1170–8.CrossRefGoogle Scholar
Kolata, Gina 2012. ‘Genes now tell doctors secrets they can’t utter’, New York Times August 25.
Levitt, Mairi and Weldon, Sue 2005. ‘A well placed trust?: Public perceptions of the governance of DNA databases’, Critical Public Health 15: 311–21.CrossRefGoogle Scholar
McKie, Robin 2013. ‘Why do identical twins end up having such different lives?’ The Observer June 2. Available at: (accessed 1 April 2014).
Meulenkamp, Tineke M., Gevers, Sjef J. K., Bovenberg, Jasper A. and Smets, Ellen M. A. 2012. ‘Researchers’ opinions towards the communication of results of biobank research: A survey study’, European Journal of Human Genetics 20: 258–62.CrossRefGoogle ScholarPubMed
National Bioethics Advisory Committee (USA) 1999. Research Involving Human Biological Materials: Ethical Issues and Policy Guidance. Available at: (accessed 27 June 2013).
Nijsingh, Niels 2012. ‘Blurring boundaries’, American Journal of Bioethics 12: 26–7.CrossRefGoogle ScholarPubMed
Powers, Madison 2002. ‘Privacy and genetics’, in Burley, and Harris, (eds.) A Companion to Genethics. Oxford: Blackwell, pp. 364–78.Google Scholar
Rothstein, Mark 2013. ‘Should researchers disclose results to descendants?American Journal of Bioethics 13: 64–5.CrossRefGoogle ScholarPubMed
Samet, Jonathan M. and Bailey, Linda A. 1997. ‘Environmental population screening’, in Rothstein, (ed.) Genetic Secrets: Protecting Privacy and Confidentiality in the Genetic Era. Yale University Press, pp. 197–211.Google Scholar
Schulte, Paul A. 2004. ‘Interpretation of genetic data for medical and public health uses’, in Árnason, , Nordal, and Árnason, (eds.) Blood and Data. Ethical, Legal and Social Aspects of Human Genetic Databases. Reykjavík: University of Iceland Press, pp. 277–82.Google Scholar
Sutrop, Margit and Simm, Kadri 2004. ‘The Estonian healthcare system and the genetic database project: From limited resources to big hopes’, Cambridge Quarterly of Healthcare Ethics 13: 254–62.CrossRefGoogle ScholarPubMed
Tutton, Richard 2002. ‘Gift relationships in genetic research’, Science as Culture 11: 523–42.CrossRefGoogle Scholar
UK Biobank consent form. Available at: (accessed 27 June 2013).
Ursin, Lars Øysten, Hoeyer, Klaus and Skolbekken, John-Arne 2008. ‘The informed consenters: Governing biobanks in Scandinavia’, in Gottweis, Petersen (ed.) Biobanks. Governance in Comparative Perspective. Abingdon: Routledge, pp. 177–93.Google Scholar
Wallace, Susan E. and Kent, Alastair 2011. ‘Population biobanks and returning individual research results: mission impossible or new directions?Hum Genet 130: 393–401.CrossRefGoogle ScholarPubMed
Wertz, Dorothy and Fletcher, John C. 1989. ‘An international survey of attitudes of medical geneticists towards mass screening and access to results’, Public Health Reports 104: 35–44.Google Scholar
Wolf, Susan M., Crock, Brittney N., Van Ness Brian, , Kahn, Lawrence, Frances, Jeffrey P., Beskow, Laura M., Cho, Mildred K., Christman, Michael F., Green, Robert C., Hall, Ralph, Illes, Judy, Keane, Moira, Knoppers, Bartha M., Koenig, Barbara A., Kohane, Isaac S., LeRoy, Bonnie, Maschke, Karen J., McGeveran, William, Ossorio, Pilar, Parker, Lisa S., Petersen, Gloria M., Richardson, Henry S., Scott, Joan A., Terry, Sharon F. and Wilfond, Benjamin S. 2012. ‘Managing incidental findings and research results in genomic research involving biobanks and archived data sets’, Genetics in Medicine 14: 361–84.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×