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Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

Whole exome/ genome sequencing (WES/WGS) is now commonly used in research and is increasingly used in clinical care to identify the genetic basis of rare and unknown diseases. The management of incidental findings (IFs) generated through these analyses is debated within the research community. To examine how views regarding genomic research IFs are associated with researcher characteristics and experiences, we surveyed genetic professionals and assessed the effect of professional background and experience on their opinions. Researchers who did not have clinical training, provide clinical care to research participants, or have prior experience returning research results were in general more inclined to offer return of IFs than their colleagues with these characteristics. Understanding this will be important to fully appreciate the impact that policies on return of genetic IFs could have on participants, researchers, and genomic research.

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References

  • American College of Medical, G., & Genomics. (2013). Incidental findings in clinical genomics: A clarification. Genetics in Medicine, 15(8), 664–666.

    Article  Google Scholar 

  • Appelbaum, P. S., Waldman, C. R., Fyer, A., Klitzman, R., Parens, E., Martinez, J., et al. (2013). Informed consent for return of incidental findings in genomic research. Genetics Medicine

  • Bainbridge, M. N., Wiszniewski, W., Murdock, D. R., Friedman, J., Gonzaga-Jauregui, C., Newsham, I., et al. (2011). Whole-genome sequencing for optimized patient management. Science Translational Medicine, 3(87), 87re83.

    Article  Google Scholar 

  • Cassa, C. A., Savage, S. K., Taylor, P. L., Green, R. C., McGuire, A. L., & Mandl, K. D. (2012). Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility. Genome Research, 22(3), 421–428.

    Article  CAS  Google Scholar 

  • Clayton, E. W., & McGuire, A. L. (2012). The legal risks of returning results of genomics research. Genetics in Medicine, 14(4), 473–477.

    Article  Google Scholar 

  • Green, R. C., Berg, J. S., Berry, G. T., Biesecker, L. G., Dimmock, D. P., Evans, J. P., et al. (2012). Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genetics in Medicine, 14(4), 405–410.

    Article  CAS  Google Scholar 

  • Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., et al. (2013a). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565–574.

    Article  CAS  Google Scholar 

  • Green, R. C., Lupski, J. R., & Biesecker, L. G. (2013b). Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional. JAMA, 310(4), 365–366.

    Article  CAS  Google Scholar 

  • Grove, M. E., Wolpert, M. N., Cho, M. K., Lee, S. S., Ormond, K. E. (2013). Views of genetics health professionals on the return of genomic results. Journal Genetics Counselling

  • Jarvik, G. P., Amendola, L. M., Berg, J. S., Brothers, K., Clayton, E. W., Chung, W., et al. (2014). Return of genomic results to research participants: The floor, the ceiling, and the choices in between. American Journal of Human Genetics, 94(6), 818–826.

    Article  CAS  Google Scholar 

  • Jewell, S. D. (2012). Perspective on biorepository return of results and incidental findings. University of Minnesota. Consortium on Law and Values in Health, Environment & the Life Sciences, 13 (2).

  • Johnson, G., Lawrenz, F., & Thao, M. (2012). An empirical examination of the management of return of individual research results and incidental findings in genomic biobanks. Genetics in Medicine, 14(4), 444–450.

    Article  Google Scholar 

  • Klitzman, R., Appelbaum, P. S., Fyer, A., Martinez, J., Buquez, B., Wynn, J., et al. (2013). Researchers’ views on return of incidental genomic research results: Qualitative and quantitative findings. Genetics in Medicine, 15(11), 888–895.

    Article  Google Scholar 

  • Kohane, I. S., Masys, D. R., & Altman, R. B. (2006). The incidentalome: A threat to genomic medicine. JAMA, 296(2), 212–215.

    Article  CAS  Google Scholar 

  • Lemke, A. A., Bick, D., Dimmock, D., Simpson, P., & Veith, R. (2013). Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: A survey study. Clinical Genetics, 84(3), 230–236.

    Article  CAS  Google Scholar 

  • Lohn, Z., Adam, S., Birch, P., Townsend, A., & Friedman, J. (2013). Genetics professionals’ perspectives on reporting incidental findings from clinical genome-wide sequencing. American Journal of Medical Genetics. Part A, 161A(3), 542–549.

    Article  Google Scholar 

  • Meacham, M. C., Starks, H., Burke, W., & Edwards, K. (2010). Researcher perspectives on disclosure of incidental findings in genetic research. Journal of Empirical Research on Human Research Ethics, 5(3), 31–41.

    Article  Google Scholar 

  • Miller, F. G., Mello, M. M., & Joffe, S. (2008). Incidental findings in human subjects research: What do investigators owe research participants? The Journal of Law, Medicine & Ethics, 36(2), 271–279. 211.

    Article  Google Scholar 

  • National Heart, L., Blood Institute working, g., Fabsitz, R. R., McGuire, A., Sharp, R. R., Puggal, M., et al. (2010). Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a national heart, lung, and blood Institute working group. Circulation Cardiovascolare Genetics, 3 (6), 574–580

  • Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M. T., et al. (2012). Clinical application of exome sequencing in undiagnosed genetic conditions. Journal of Medical Genetics, 49(6), 353–361.

    Article  CAS  Google Scholar 

  • Presidential Commission for the Study of Bioethical Issues (2013) Anticipate and communicate: ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contexts. Washington, DC: Presidential Commission for the Study of Bioethical Issues.

  • Ross, L. F., Rothstein, M. A., & Clayton, E. W. (2013). Mandatory extended searches in all genome sequencing: “Incidental findings,” patient autonomy, and shared decision making. JAMA, 310(4), 367–368.

    Article  CAS  Google Scholar 

  • Townsend, A., Adam, S., Birch, P. H., Lohn, Z., Rousseau, F., & Friedman, J. M. (2012). “I want to know what’s in Pandora’s Box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. American Journal of Medical Genetics. Part A, 158A(10), 2519–2525.

    Article  Google Scholar 

  • Williams, J. K., Daack-Hirsch, S., Driessnack, M., Downing, N., Shinkunas, L., Brandt, D., et al. (2012). Researcher and institutional review board chair perspectives on incidental findings in genomic research. Genetic Testing and Molecular Biomarkers, 16(6), 508–513.

    Article  Google Scholar 

  • Wolf, S. M., Lawrenz, F. P., Nelson, C. A., Kahn, J. P., Cho, M. K., Clayton, E. W., et al. (2008). Managing incidental findings in human subjects research: analysis and recommendations. The Journal of Law, Medicine & Ethics, 36(2), 219–248. 211.

    Article  Google Scholar 

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Acknowledgments

We gratefully acknowledge the contribution of the research participants. This work was funded by grants from the National Human Genome Research Institute: R21 HG006596 (Dr. Appelbaum, PI), R01 HG006600 (Dr. Chung, PI), and P50 HG007257 (Dr. Appelbaum, PI).

Conflict of Interest

Julia Wynn, Josue Martinez, Jimmy Duong, Yuan Zhang, Jo Phelan, Abby Fyer, Robert Klitzman, Paul S. Appelbaum and Wendy K. Chung declare that they have no conflict of interest

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1964, as revised in 2000 (5). Informed consent was obtained from all subjects for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

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Authors and Affiliations

  1. Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Ave., Russ Berrie Pavilion, 6th Fl, Rm 620, New York, NY, 10032, USA

    Julia Wynn, Josue Martinez & Wendy K. Chung

  2. Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, USA

    Jimmy Duong & Yuan Zhang

  3. Department of Sociomedical Sciences, Mailman School of Public Health, Columbia University, New York, NY, USA

    Jo Phelan

  4. Department of Psychiatry, Columbia University Medical Center and NY State Psychiatric Institute, New York, NY, USA

    Abby Fyer, Robert Klitzman & Paul S. Appelbaum

  5. Department of Medicine, Columbia University Medical Center, 1150 St. Nicholas Ave., Russ Berrie Pavilion, 6th Fl, Rm 620, 10032, New York, NY, USA

    Wendy K. Chung

Authors
  1. Julia Wynn
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  2. Josue Martinez
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  3. Jimmy Duong
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  4. Yuan Zhang
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  5. Jo Phelan
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  6. Abby Fyer
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  7. Robert Klitzman
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  8. Paul S. Appelbaum
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  9. Wendy K. Chung
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Corresponding author

Correspondence to Wendy K. Chung.

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Wynn, J., Martinez, J., Duong, J. et al. Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research. J Genet Counsel 24, 833–841 (2015). https://doi.org/10.1007/s10897-014-9817-1

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  • DOI: https://doi.org/10.1007/s10897-014-9817-1

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