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

Journal name:
Genetics in Medicine
Published online



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


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.


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.


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.


incidental findings; return of results

At a glance


  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.


  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.

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Author information


  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

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