domingo, 7 de julio de 2013

Researchers/' views on return of incidental genomic research results: qualitative and quantitative findings : Genetics in Medicine : Nature Publishing Group


Genetics in Medicine | Original Research Article

Researchers’ views on return of incidental genomic research results: qualitative and quantitative findings

Genetics in Medicine
(2013)
doi:10.1038/gim.2013.87
Received
Accepted
Published online

Abstract

Purpose:

Comprehensive genomic analysis including exome and genome sequencing is increasingly being utilized in research studies, leading to the generation of incidental genetic findings. It is unclear how researchers plan to deal with incidental genetic findings.

Methods:

We conducted a survey of the practices and attitudes of 234 members of the US genetic research community and performed qualitative semistructured interviews with 28 genomic researchers to understand their views and experiences with incidental genetic research findings.

Results:

We found that 12% of the researchers had returned incidental genetic findings, and an additional 28% planned to do so. A large majority of researchers (95%) believe that incidental findings for highly penetrant disorders with immediate medical implications should be offered to research participants. However, there was no consensus on returning incidental results for other conditions varying in penetrance and medical actionability. Researchers raised concerns that the return of incidental findings would impose significant burdens on research and could potentially have deleterious effects on research participants if not performed well. Researchers identified assistance needed to enable effective, accurate return of incidental findings.

Conclusion:

The majority of the researchers believe that research participants should have the option to receive at least some incidental genetic research results.
Genet Med advance online publication 27 June 2013
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Keywords:

genomic results; incidental findings; return of results; secondary findings; whole-exome sequencing

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References

  1. Kaufman D, Murphy J, Scott J, Hudson K. Subjects matter: a survey of public opinions about a large genetic cohort study. Genet Med 2008;10:831–839.
  2. Wendler D, Emanuel E. The debate over research on stored biological samples: what do sources think? Arch Intern Med 2002;162:1457–1462.
  3. 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;5:31–41.
  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):574–580.
  5. Affleck P. Is it ethical to deny genetic research participants individualised results? J Med Ethics 2009;35:209–213.
  6. Cho MK. Understanding incidental findings in the context of genetics and genomics. J Law Med Ethics: J Am Soc Law Med Ethics. Summer 2008;36(2):280–285, 212.
  7. Commission NBA. Research Involving Human Biological Materials: Ethical Issues and Policy Guidance. National Bioethics Advisory Commission: Rockville, MD, 1999.
  8. Van Ness B. Genomic research and incidental findings. J Law Med Ethics: J Am Soc Law Med Ethics. Summer 2008;36(2):292–297, 212.
  9. McGuire AL, Caulfield T, Cho MK. Research ethics and the challenge of whole-genome sequencing. Nat Rev Genet 2008;9:152–156.
  10. Corbin J, Strauss A. Basics of Qualitative Research: Techniques and Procedures for Developing Grounded Theory, 3rd edn. Sage Publications: Thousand Oaks, California, 2008.
  11. Geertz C. Thick description: toward an interpretive theory of culture. In: The Interpretation of Cultures. Basic Books: New York, NY, 1973:3–30.
  12. Beskow LM, Burke W, Merz JF, et al. Informed consent for population-based research involving genetics. JAMA 2001;286:2315–2321.
  13. Evans JP, Rothschild BB. Return of results: not that complicated? Genet Med 2012;14:358–360.
  14. Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. American College of Medical Genetics and Genomics: Phoenix, Arizona, March 2013.
  15. Berg JS, Adams M, Nassar N, et al. An informatics approach to analyzing the incidentalome. Genet Med 2013;15:36–44.
  16. 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;91:97–108.
  17. Refsgaard L, Holst AG, Sadjadieh G, Haunsø S, Nielsen JB, Olesen MS. High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet 2012;20:905–908.
  18. Wolf SM, Crock BN, Van Ness B, et al. Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet Med 2012;14:361–384.
  19. Committee on Bioethics. Ethical issues with genetic testing in pediatrics. Pediatrics 2001;107(6):1451–1455.
  20. Committee on Bioethics, Committee on Genetics, and The American College of Medical Genetics and Genomics Social, Ethical, Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Pediatrics 2013;131:620–622.
  21. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Am J Hum Genet 1995;57(5):1233–1241.
  22. Ross LF, Saal HM, David KL, Anderson RR. Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med 2013;15:234–245.
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Author information

Affiliations

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

    • Robert Klitzman,
    • Paul S. Appelbaum,
    • Abby Fyer &
    • Brigitte Buquez

  2. Department of Pediatrics, Columbia University Medical Center, New York, New York, USA

    • Josue Martinez,
    • Julia Wynn &
    • Wendy K. Chung

  3. The Hastings Center, Garrison, New York, USA

    • Cameron R. Waldman &
    • Erik Parens

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

    • Jo Phelan

  5. Department of Medicine, Columbia University Medical Center, New York, New York, USA

    • Wendy K. Chung

Corresponding author

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Researchers/' views on return of incidental genomic research results: qualitative and quantitative findings : Genetics in Medicine : Nature Publishing Group
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