An empirical examination of the management of return of individual research results and incidental findings in genomic biobanks

Johnson, Gina; Lawrenz, Frances; Thao, Mao

doi:10.1038/gim.2012.20

Cited by 34 publications

(35 citation statements)

References 27 publications

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“…Currently, there are biobanks such as the Personal Genome Project that will give all genetic information back to participants, but many biobanks like DeCode genetics have not returned genetic information to participants [4]. According to the study of Johnson et al [5], half of the examined biobanks had addressed the issue of communicating results to study subjects, and half had documented that they had contacted participants. However, after re-analyzing a sample, contacting the participant and explaining the meaning of the finding to him or her, the problem of organizing possible interventions and follow-up in the health care system still remains.…”

Section: Introductionmentioning

confidence: 99%

The Return of Unexpected Research Results in a Biobank Study and Referral to Health Care for Heritable Long QT Syndrome

Haukkala

Kujala²,

Alha³

et al. 2013

Public Health Genomics

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Background: In this study, we examined how biobank study participants, who were found to have long QT syndrome (LQTS), a potentially life-threatening but treatable cardiac arrhythmia condition, experienced the process of disclosure of unexpected results and referral to health care. Methods: All 27 subjects with a LQTS mutation finding were asked to complete a questionnaire. Four participants did not uptake the re-testing and 5 others did not respond to the questionnaire. We received 17 questionnaires from 6 males and 11 females, aged 46-82; 5 of them were also willing to participate in qualitative interviews. Results: Of the respondents, 16/17 had experienced the process of receiving the results as positive and useful, especially if they had had symptoms. One respondent experienced the process negatively due to concerns related to informing her children. All respondents felt that genetic results should be reported back to the participants, while 2 indicated that this should occur only in the case of treatable conditions. Respondents had informed all of their children about the genetic condition, except 2 minors. Conclusions: The respondents from a population biobank study who were informed about an unexpected genetic finding evaluated this process as mainly positive. They considered that delivering genetic information about a life-threatening but actionable condition has more beneficial than adverse consequences. The feedback policy for biobanks should include how and who is informed, advise treatment or care pathways for actionable findings, and it should also include suitable options for those who do not want to know about such findings.

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Section: Introductionmentioning

confidence: 99%

The Return of Unexpected Research Results in a Biobank Study and Referral to Health Care for Heritable Long QT Syndrome

Haukkala

Kujala²,

Alha³

et al. 2013

Public Health Genomics

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“…10,11 When it comes to participants' views, research suggests that the feedback of DNA results obtained during epidemiological studies is perceived as desirable 12,13 and may motivate participation. 14,15 However, although (potential) research participants may be positive about receiving feedback when asked hypothetical questions, far less is known about their experiences of receiving clinically significant genetic results.…”

Section: Introductionmentioning

confidence: 99%

“…Original research article of principal investigators in genetics/genomics studies 10 or biobanks 11 have feedback policies 11 or say they had considered feeding back individualized results, 10 only ~25% have fed back results to participants. 10,11 When it comes to participants' views, research suggests that the feedback of DNA results obtained during epidemiological studies is perceived as desirable 12,13 and may motivate participation.…”

Section: Introductionmentioning

confidence: 99%

The responses of research participants and their next of kin to receiving feedback of genetic test results following participation in the Australian Ovarian Cancer Study

Hallowell

Alsop

Gleeson

et al. 2013

Genetics in Medicine

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Purpose:The generation of clinically significant genetic data during research studies raises a number of ethical issues about the feedback of this information to research participants. Little is known about research participants' experiences of this practice.Methods: This qualitative interview study investigated research participants' (n = 10) or their nominated next of kin's (relatives) (n = 15) experiences of receiving BRCA1 and BRCA2 genetic test information following participation in the Australian Ovarian Cancer Study.Results: Interviewees had mixed responses to receiving feedback. The participants of the Australian Ovarian Cancer Study were more positive about receiving feedback, acknowledging that the genetic information may be useful for their kin. Relatives frequently described themselves as initially distressed at receiving feedback, particularly those who were unaware of the participation of their mothers in the Australian Ovarian Cancer Study. The participants of the Australian Ovarian Cancer Study and their relatives expressed an intention to disseminate the information to relatives following confirmation of the result. Conclusion:We suggest that research participants be encouraged to discuss their participation with family members from the outset. We also outline a number of different strategies for providing feedback to research participants and their next of kin that may lessen the immediate negative impact of receiving feedback of research results. 2013:15(6):458-465 Genet Med

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“…Currently, few large-scale genomic research projects in the United States routinely return results to participants (Bledsoe et al, 2012;Johnson et al, 2012;McGuire et al, 2013). Even fewer have taken steps to incorporate return of results to family members of deceased donors (Chan et al, 2012;Wolf et al, 2015).…”

Section: Discussionmentioning

confidence: 99%

Confidentiality in Biobanking Research: A Comparison of Donor and Nondonor Families' Understanding of Risks

Siminoff

Wilson‐Genderson

Mosavel

et al. 2017

Genetic Testing and Molecular Biomarkers

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Aims: Confidentiality of personal identifiers potentially linking the genetic results from biobanking participants back to the donor and donor relatives is a concern. The risks associated with a breach of confidentiality should be ascertained when biobanks collect samples requiring the consent of a family decision maker (FDM) from deceased organ and tissue donors. This article explores FDM knowledge and opinions regarding risks associated with participation in biobanking research in the context of the Genotype-Tissue Expression (GTEx) Project. Methods: Data collection included a survey completed by organ procurement organization requesters (n = 37) and semistructured telephone interviews with the FDMs (n = 85). Results: Donor families were more likely to know that there was a risk that a patient's identity could be revealed through a breach of confidentiality ( p < 0.05). They also were more likely to understand that researchers using biobanked tissue would not have access to the patient's exact identity ( p < 0.05). FDMs who refused donation were more concerned about risks than donors and reported lower levels of support for medical research in general. Finally, families were frequently interested in the return of results and willing to trade absolute confidentiality for participation. Conclusions: Clear discussion of the risk of breach of confidentiality is needed during the consent process. The risk and benefit equation could be equalized if studies such as GTEx offered genomic results to interested participants.

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An empirical examination of the management of return of individual research results and incidental findings in genomic biobanks

Cited by 34 publications

References 27 publications

The Return of Unexpected Research Results in a Biobank Study and Referral to Health Care for Heritable Long QT Syndrome

The Return of Unexpected Research Results in a Biobank Study and Referral to Health Care for Heritable Long QT Syndrome

The responses of research participants and their next of kin to receiving feedback of genetic test results following participation in the Australian Ovarian Cancer Study

Confidentiality in Biobanking Research: A Comparison of Donor and Nondonor Families' Understanding of Risks

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