Original article
Biobank Participants' Preferences for Disclosure of Genetic Research Results: Perspectives From the OurGenes, OurHealth, OurCommunity Project

https://doi.org/10.1016/j.mayocp.2014.03.015Get rights and content

Abstract

Objective

To assess biobank participants' preferences for disclosure of genetic research results.

Patients and Methods

We conducted a cross-sectional survey of participants in the OurGenes, OurHealth, OurCommunity biobank. Respondents were surveyed about preferences for disclosure, importance of disclosure, communication of results with practitioners, and sharing of results after respondents' death. Multivariate regression analysis was used to assess independent sociodemographic and clinical predictors of disclosure preferences. Data collection occurred from June 6, 2011, to June 25, 2012.

Results

Among 1154 biobank participants, 555 (48%) responded. Most thought that research result disclosure was important (90%). Preference for disclosure varied, depending on availability of disease treatment (90% vs 64%, P<.001), high vs low disease risk (79% vs 66%, P<.001), and serious vs mild disease (83% vs 68%, P<.001). More than half of respondents (57%) preferred disclosure even when there is uncertainty about the results' meaning, and 87% preferred disclosure if the disease is highly heritable. Older age was positively associated with interest in disclosure, whereas female sex, nonwhite race, diabetes mellitus, and depression and/or anxiety were negatively associated with disclosure. More than half of respondents (52%) would want their results returned to their nearest biological relative after death.

Conclusions

OurGenes biobank participants report strong preferences for disclosure of research results, and most would designate a relative to receive results after death. Participant preferences for serious vs mild disease, high vs low disease risk, and availability of disease treatment differed significantly. Future research should consider family members' preferences for receiving research results from enrolled research participants.

Section snippets

Study Group

Participants were selected from BWH's OurGenes biobank, which consists of patients recruited in the context of clinical care appointments since 2010. Participants consent to storage of blood, linkage of the sample with their BWH electronic medical record, and storage of a health information questionnaire that collects additional information about participants' health behaviors, lifestyle, and family history. Most participants (93%) also provide consent to be recontacted by the biobank for

Description of the Study Population

We contacted 1154 biobank participants by e-mail or mail. The total number of respondents was 555 (224 responded via e-mail and 332 responded via mail), and the total response rate was 48.1%. No statistically significant differences were observed between the response rates of men and women: 186 of the 404 (46%) and 369 of the 750 (49%), respectively. No statistically significant differences were observed between the response rates of individuals with any of the 10 health conditions. However,

Discussion

Our study supports previous research that participants want genetic research results.14 We found that preferences regarding disclosure of individual genetic research results vary on the basis of the type of research result. Most participants in our study wanted genetic research results disclosed across all the hypothetical scenarios. Even when no intervention was available, 64% definitely wanted results and 20% probably wanted results disclosed. Similarly, even when there was uncertainty about

Conclusion

Participants in the OurGenes biobank have a strong preference to receive genetic research results, even when there is uncertainty around the meaning of the research result. Participants want to disclose results to their primary care practitioner and to have results disclosed to their nearest biological relative after death. Future studies should examine best practices for disclosing research results.34 By considering participants' preferences and increasing knowledge of the effect of research

Acknowledgments

We thank the BWH's Biomedical Research Institute's Center for Human Genetics working group for support of this project and the OurGenes participants who responded to our survey.

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    For editorial comment, see page 715; for related articles, see pages 718, 727, 747

    Grant Support: OurGenes, OurHealth, OurCommunity was supported by an institutional grant from the Brigham and Women's Hospital Biomedical Research Institute and has received an unrestricted grant from Hewlett Packard. Dr Karlson was supported by National Institutes of Health grants AR052403, AR047782, and AR049880. Dr Seidman was supported by Howard Hughes Medical Institute and National Institutes of Health grant U01HG006500. Dr Lehmann was supported by the Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

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