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.
Access options
Subscribe to Journal
Get full journal access for 1 year
$499.00
only $41.58 per issue
All prices are NET prices.
VAT will be added later in the checkout.
Rent or Buy article
Get time limited or full article access on ReadCube.
from$8.99
All prices are NET prices.
Data availability
Data are available upon request by contacting the study team.
References
- 1.
McCarty, C. A. et al. The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med. Genomics. 4, 13 (2011).
- 2.
eMERGE Consortium. Harmonizing clinical sequencing and interpretation for the eMERGE III Network. Am. J. Hum. Genet. 105, 588–605 (2019).
- 3.
Ludman, E. J. et al. Glad you asked: participants’ opinions of re-consent for dbGap data submission. J. Empir. Res. Hum. Res. Ethics. 5, 9–16 (2010).
- 4.
Trinidad, S. B., Fullerton, S. M., Bares, J. M., Jarvik, G. P., Larson, E. B. & Burke, W. Informed consent in genome-scale research: what do prospective participants think? AJOB Prim. Res. 3, 3–11 (2012).
- 5.
Green, R. C. et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15, 565–574 (2013).
- 6.
Appelbaum, P. S. et al. Models of consent to return of incidental findings in genomic research. Hastings Cent. Rep. 44, 22–32 (2014).
- 7.
Burke, W., Beskow, L. M., Trinidad, S. B., Fullerton, S. M. & Brelsford, K. Informed consent in translational genomics: insufficient without trustworthy governance. J. Law Med. Ethics. 46, 79–86 (2018).
- 8.
Mackley, M. P., Fletcher, B., Parker, M., Watkins, H. & Ormondroyd, E. Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies. Genet. Med. 19, 283–293 (2017).
- 9.
Bijlsma, R. et al. Preferences to receive unsolicited findings of germline genome sequencing in a large population of patients with cancer. ESMO Open. 5, e000619 (2020).
- 10.
Middleton, A. et al. Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. Eur. J. Hum. Genet. 24, 21–29 (2016).
- 11.
Godino, L. et al. Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing. J. Genet. Couns. https://doi.org/10.1002/jgc4.1350 (2020).
- 12.
Appelbaum, P. S. et al. Researchers’ views on informed consent for return of secondary results in genomic research. Genet. Med. 17, 644–650 (2015).
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.
Author information
Affiliations
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
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.
Additional information
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary information
Rights and permissions
About this article
Cite this article
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
Received:
Revised:
Accepted:
Published:
