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Published in: Journal of Genetic Counseling 5/2015

01-10-2015 | Original Research

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

Authors: Julia Wynn, Josue Martinez, Jimmy Duong, Yuan Zhang, Jo Phelan, Abby Fyer, Robert Klitzman, Paul S. Appelbaum, Wendy K. Chung

Published in: Journal of Genetic Counseling | Issue 5/2015

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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.
Literature
go back to reference American College of Medical, G., & Genomics. (2013). Incidental findings in clinical genomics: A clarification. Genetics in Medicine, 15(8), 664–666.CrossRef American College of Medical, G., & Genomics. (2013). Incidental findings in clinical genomics: A clarification. Genetics in Medicine, 15(8), 664–666.CrossRef
go back to reference 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 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
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference Clayton, E. W., & McGuire, A. L. (2012). The legal risks of returning results of genomics research. Genetics in Medicine, 14(4), 473–477.CrossRef Clayton, E. W., & McGuire, A. L. (2012). The legal risks of returning results of genomics research. Genetics in Medicine, 14(4), 473–477.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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 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
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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). 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).
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference Kohane, I. S., Masys, D. R., & Altman, R. B. (2006). The incidentalome: A threat to genomic medicine. JAMA, 296(2), 212–215.CrossRef Kohane, I. S., Masys, D. R., & Altman, R. B. (2006). The incidentalome: A threat to genomic medicine. JAMA, 296(2), 212–215.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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 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
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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. 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.
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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.CrossRef
go back to reference 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.CrossRef 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.CrossRef
Metadata
Title
Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research
Authors
Julia Wynn
Josue Martinez
Jimmy Duong
Yuan Zhang
Jo Phelan
Abby Fyer
Robert Klitzman
Paul S. Appelbaum
Wendy K. Chung
Publication date
01-10-2015
Publisher
Springer US
Published in
Journal of Genetic Counseling / Issue 5/2015
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI
https://doi.org/10.1007/s10897-014-9817-1

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