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Experiences and perspectives on the return of secondary findings among genetic epidemiologists

Genetics in Medicine (2018) | Download Citation

Subjects

Abstract

Purpose

While there has been a recent increase in scholarship around developing policies for the return of results from genetic sequencing, it is not clear whether these approaches are appropriate for genetic epidemiology studies. Because genetic epidemiological research increasingly utilizes genome sequencing methods, particularly in large data sets where researchers did not directly ascertain the subjects, it is important to understand researchers’ perspectives on the return of results.

Methods

We conducted an online survey of members of the International Genetic Epidemiology Society to document the diversity of experiences and impressions regarding return of results. The survey contained both closed and open-ended questions.

Results

Among our respondents who enroll their own research participants, only 21% return secondary findings. Most respondents do not search their sequence data for clinically actionable findings not associated with their disease of interest. Many feel that genetic epidemiologists have a unique perspective on the return of results and that research studies should not follow the same procedures as clinical sequencing studies.

Conclusion

Precision medicine initiatives that rely on both clinical and “big data” genomic research should account for variation in researcher perspectives and study design limitations when developing policies and standard practices regarding the return of results.

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Acknowledgements

We are grateful to Claire Simpson, Gail Jarvik, Diptasri Mandal, and Rob Igo, Jr. for their input on the development of the survey; to the IGES ELSI Committee for their time in testing the survey; and to the leadership of IGES for their support in distributing the survey. Funding for this work was provided by the Center for Genetics, Ethics, Research and Law (CGREAL) (2P50-HG-003390-06) from the National Human Genome Research Institute.

Author information

Affiliations

  1. Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA

    • Catherine M. Stein PhD
    •  & Erika S. Trapl PhD
  2. Department of Bioethics, Case Western Reserve University, Cleveland, OH, USA

    • Roselle Ponsaran MA
    •  & Aaron J. Goldenberg PhD, MPH

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Disclosure

The authors declare no conflicts of interest.

Corresponding author

Correspondence to Aaron J. Goldenberg PhD, MPH.

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DOI

https://doi.org/10.1038/s41436-018-0369-x