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

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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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

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