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. 2021 Dec;23(12):2281-2288.
doi: 10.1038/s41436-021-01271-1. Epub 2021 Jul 29.

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

Will Schupmann  1 , Skye A Miner  1 , Haley K Sullivan  2 , Jamie R Glover  3 , Janet E Hall  4 , Shepherd H Schurman  4 , Benjamin E Berkman  5
Affiliations

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

Will Schupmann et al. Genet Med. 2021 Dec.

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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Conflict of interest statement

Conflicts of interest statement: The authors have no conflicts of interest to declare.

Figures

Figure 1.
Figure 1.. Beliefs about the Kinds of Genetic SFs that Could be Returned
Notes: Pearson’s Chi-squared tests were conducted for A and C. McNemar’s tests were conducted for B. C does not include the 6 respondents who switched from accepting to refusing. “Persistent Refusers” in C are the 42 participants who refused at both timepoints
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References

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