Experiences and attitudes of genome investigators regarding return of individual genetic test results

Journal name:
Genetics in Medicine
(2013)
Volume:
15,
Pages:
882–887
DOI:
doi:10.1038/gim.2013.58
Received
Accepted
Published online

Abstract

Purpose:

Whether and how to return individual genetic results to study participants is among the most contentious policy issues in contemporary genomic research.

Methods:

We surveyed corresponding authors of genome-wide association studies, identified through the National Human Genome Research Institute’s Catalog of Published Genome-Wide Association Studies, to describe the experiences and attitudes of these stakeholders.

Results:

Of 357 corresponding authors, 200 (56%) responded. One hundred twenty-six (63%) had been responsible for primary data and sample collection, whereas 74 (37%) had performed secondary analyses. Only 7 (4%) had returned individual results within their index genome-wide association studies. Most (69%) believed that return of results to individual participants was warranted under at least some circumstances. Most respondents identified a desire to benefit participants’ health (63%) and respect for participants’ desire for information (57%) as major motivations for returning results. Most also identified uncertain clinical utility (76%), the possibility that participants will misunderstand results (74%), the potential for emotional harm (61%), the need to ensure access to trained clinicians (59%), and the potential for loss of confidentiality (51%) as major barriers to return of results.

Conclusion:

Investigators have limited experience returning individual results from genome-scale research, yet most are motivated to do so in at least some circumstances.

Genet Med 15 11, 882–887.

Keywords:

incidental findings; return of results

At a glance

Figures

  1. Figure 1:

    Motivations for the return of individual genetic research results among genome-wide association study investigators.

  2. Figure 2:

    Barriers to the return of individual genetic research results among genome-wide association study investigators.

References

  1. Johnson AD, O’Donnell CJ. An open access database of genome-wide association results. BMC Med Genet 2009;10:6.
  2. Johnson AD, Bhimavarapu A, Benjamin EJ, et al. CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies. Genet Med 2010;12:355363.
  3. Bredenoord AL, Kroes HY, Cuppen E, Parker M, van Delden JJ. Disclosure of individual genetic data to research participants: the debate reconsidered. Trends Genet 2011;27:4147.
  4. Fabsitz RR, McGuire A, Sharp RR, et al. Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines From a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet 2010;3(6):574580.
  5. Meltzer LA. Undesirable implications of disclosing individual genetic results to research participants. Am J Bioeth 2006;6:2830; author reply W10.
  6. Bredenoord AL, Onland-Moret NC, Van Delden JJ. Feedback of individual genetic results to research participants: in favor of a qualified disclosure policy. Hum Mutat 2011;32:861867.
  7. Kaufman D, Murphy J, Scott J, Hudson K. Subjects matter: a survey of public opinions about a large genetic cohort study. Genet Med 2008;10:831839.
  8. Shalowitz DI, Miller FG. Communicating the results of clinical research to participants: attitudes, practices, and future directions. PLoS Med 2008;5:e91.
  9. Richards MP, Ponder M, Pharoah P, Everest S, Mackay J. Issues of consent and feedback in a genetic epidemiological study of women with breast cancer. J Med Ethics 2003;29:9396.
  10. Wolf SM, Lawrenz FP, Nelson CA, et al. Managing incidental findings in human subjects research: analysis and recommendations. J Law Med Ethics 2008;36(2):219248, 211.
  11. Illes J, Kirschen MP, Edwards E, et al.; Working Group on Incidental Findings in Brain Imaging Research. Ethics. Incidental findings in brain imaging research. Science 2006;311:783784.
  12. National Institute of Biomedical Imaging and Bioengineering. NIBIB Points to Consider for Investigators: Incidental Findings in Imaging Research, 2011; http://www.nibib.nih.gov/Research/Resources/PointsToConsider. Accessed 22 February 2013.
  13. Bledsoe MJ, Clayton EW, McGuire AL, Grizzle WE, O’Rourke PP, Zeps N. Return of research results from genomic biobanks: cost matters. Genet Med 2013;15:103105.
  14. Ossorio P. Taking aims seriously: repository research and limits on the duty to return individual research findings. Genet Med 2012;14:461466.
  15. Beskow LM, Burke W. Offering individual genetic research results: context matters. Sci Transl Med 2010;2(38):38cm20.
  16. National Bioethics Advisory Commission. Research Involving Human Biological Materials: Ethical Issues and Policy Guidance. National Bioethics Advisory Commission: Rockville, MD, 1999.
  17. Beskow LM, Burke W, Merz JF, et al. Informed consent for population-based research involving genetics. JAMA 2001;286:23152321.
  18. Meacham MC, Starks H, Burke W, Edwards K. Researcher perspectives on disclosure of incidental findings in genetic research. J Empir Res Hum Res Ethics 2010;5:3141.
  19. Williams JK, Daack-Hirsch S, Driessnack M, et al. Researcher and institutional review board chair perspectives on incidental findings in genomic research. Genet Test Mol Biomarkers 2012;16:508513.
  20. Hindorff LA, Junkins HA, Manolio TA. A catalog of published genome-wide association studies. http://www.genome.gov/26525384. Accessed 22 February 2013.
  21. Kohane IS, Hsing M, Kong SW. Taxonomizing, sizing, and overcoming the incidentalome. Genet Med 2012;14:399404.
  22. Johnston JJ, Rubinstein WS, Facio FM, et al. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet 2012;91:97108.
  23. Cassa CA, Savage SK, Taylor PL, Green RC, McGuire AL, Mandl KD. Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility. Genome Res 2012;22:421428.
  24. McGuire AL, Robinson JO, Ramoni RB, Morley DS, Joffe S, Plon SE. Returning genetic research results: study type matters. Per Med 2013;10:2734.
  25. Dressler LG, Smolek S, Ponsaran R, et al.; GRRIP Consortium. IRB perspectives on the return of individual results from genomic research. Genet Med 2012;14:215222.
  26. Knoppers BM, Joly Y, Simard J, Durocher F. The emergence of an ethical duty to disclose genetic research results: international perspectives. Eur J Hum Genet 2006;14:11701178.

Download references

Author information

Affiliations

  1. Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA

    • Rachel B. Ramoni
  2. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA

    • Amy L. McGuire &
    • Jill Oliver Robinson
  3. Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA

    • Debra S. Morley
  4. Texas Children’s Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA

    • Sharon E. Plon
  5. Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA

    • Steven Joffe
  6. Department of Medicine, Boston Children’s Hospital, Boston, Massachusetts, USA

    • Steven Joffe

Corresponding author

Correspondence to:

Author details

Supplementary information

Additional data