Preferences of biobank participants for receiving actionable genomic test results: results of a recontacting study

Abstract

Purpose

We sought to determine preferences of biobank participants whose samples were tested for clinically actionable variants but did not respond to an initial invitation to receive results.

Methods

We recontacted a subsample of participants in the Kaiser Permanente Washington/University of Washington site of the Electronic Medical Records and Genomics (eMERGE3) Network. The subsample had provided broad consent for their samples to be used for research but had not responded to one initial mailed invitation to receive their results. We sent a letter from the principal investigators with phone outreach. If no contact was made, we sent a certified letter stating our assumption that participant had actively refused. We collected reasons for declining.

Results

We recontacted 123 participants. Response rate was 70.7% (n = 87). Of these, 62 (71.3%) declined the offer of returned results and 25 (28.7%) consented. The most common reasons provided for refusal included not wanting to know (n = 22) and concerns about insurability (n = 28).

Conclusion

Efforts to recontact biobank participants can yield high response. Though active refusal upon recontact was common, our data do not support assuming initial nonresponse to be refusal. Future research can work toward best practices for reconsenting, especially when clinically actionable results are possible.

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Fig. 1: Study overview.

Data availability

Data are available upon request by contacting the study team.

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Acknowledgements

5U01HG008657 NHGRI. The funder had no role in design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

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Authors

Contributions

Conceptualization: E.B.L., G.P.J., A.S., N.B.H., K.A.L. Formal analysis: N.B.H., A.S. Funding acquisition: E.B.L., G.P.J. Methodology: E.B.L., G.P.J., A.S., N.B.H. Project administration: A.S. Writing—original draft: N.B.H. Writing—review & editing: N.B.H., E.B.L., G.P.J., A.S., J.D.R., K.A.L.

Corresponding author

Correspondence to Nora B. Henrikson.

Ethics declarations

Ethics declaration

All activities reported were reviewed and approved by the Kaiser Permanente Washington Health Research Institute IRB. Informed consent was obtained from all participants as required by the IRB.

Competing interests

The authors declare no competing interests.

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Henrikson, N.B., Scrol, A., Leppig, K.A. et al. Preferences of biobank participants for receiving actionable genomic test results: results of a recontacting study. Genet Med (2021). https://doi.org/10.1038/s41436-021-01111-2

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