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Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves

Abstract

Purpose

Proposals to return medically actionable secondary genetic findings (SFs) in the clinical and research settings have generated controversy regarding whether to solicit individuals’ preferences about their “right not to know” genetic information. This study contributes to the debate by surveying research participants who have actively decided whether to accept or refuse SFs.

Methods

Participants were drawn from a large National Institutes of Health (NIH) environmental health study. Participants who had accepted SFs (n = 148) or refused SFs (n = 83) were given more detailed information about the types of SFs researchers could return and were given an opportunity to revise their original decision.

Results

Forty-one of 83 initial refusers (49.4%) opted to receive SFs following the informational intervention. Nearly 75% of these “reversible refusers” thought they had originally accepted SFs. The 50.6% of initial refusers who continued to refuse (“persistent refusers”) demonstrated high levels of understanding of which SFs would be returned postintervention. The most prominent reason for refusing was concern about becoming worried or sad (43.8%).

Conclusion

This study demonstrates the need for a more robust informed consent process when soliciting research participants’ preferences about receiving SFs. We also suggest that our data support implementing a default practice of returning SFs without actively soliciting preferences.

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Fig. 1: Beliefs about the kinds of genetic secondary findings (SFs) that could be returned.

Data availability

Data is available upon individual request.

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Acknowledgements

We thank Sara Chandros Hull, Holly Taylor, and Leila Jamal for their review, as well as the Department of Bioethics at the NIH Clinical Center, and Fikri Yucel, Social and Scientific Systems, for assistance with the study.

Funding

This research was supported by the Intramural Research Program of the National Institutes of Health, including funding from the National Human Genome Research Institute, the National Institute of Environmental Health Sciences, and the NIH Clinical Center.

Author information

Affiliations

Authors

Contributions

Conceptualization: W.S., H.K.S., S.H.S., B.E.B. Data curation: W.S., S.A.M., B.E.B. Formal Analysis: W.S., S.A.M., B.E.B. Funding acquisition: B.E.B. Investigation: J.R.G. Visualization: W.S., S.A.M. Writing—original draft: W.S., B.E.B. Writing—review & editing: W.S., S.A.M., H.K.S., J.E.H., S.H.S., B.E.B.

Corresponding author

Correspondence to Benjamin E. Berkman.

Ethics declarations

Ethics declaration

The EPR (Protocol 04-E-0053, Clinicaltrials.gov NCT00341237) and this substudy were approved by the NIH IRB. Informed consent was obtained from all participants as required by the IRB. Individual level data was de-identified.

Competing interests

The authors declare no competing interests.

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Disclaimer

The views expressed are the authors’ own. They do not represent the position or policy of the National Institutes of Health, U.S. Public Health Service, or the Department of Health and Human Services.

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Schupmann, W., Miner, S.A., Sullivan, H.K. et al. Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves. Genet Med (2021). https://doi.org/10.1038/s41436-021-01271-1

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