The emergence of an ethical duty to disclose genetic research results: international perspectives

Five years ago, an article co-written by some of us (Joly and Simard) presented an emerging trend to disclose some individual genetic results to research participants within the international research community. At the time, ethical norms and scholarly publications on the return of results often did not distinguish between the return of research results in general and the return of unexpected results (also called incidental findings). Both technologies and research practices have evolved significantly. Today whole genome and exome sequencing are increasingly affordable and frequently used in genetic research. Because these techniques produce a vast amount of interpretable and non-interpretable data (i.e., data of unproven significance) about an individual, the issue of how to manage information generated by such technologies needs to be considered. However, the development of international ethical guidelines has not kept up with the rapid pace of technological progress. Indeed developments in genomic biobanking also challenge the duty to disclose research results.

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Solutions for Unexpected Challenges Encountered when Integrating Research Genomics Results into the EHR

ACI Open ◽

10.1055/s-0040-1719059 ◽

2020 ◽

Vol 04 (02) ◽

pp. e132-e135

Author(s):

Luke V. Rasmussen ◽

Christin Hoell ◽

Maureen E. Smith ◽

Rex Chisholm ◽

Justin Starren ◽

...

Keyword(s):

Genetic Research ◽

Lessons Learned ◽

Return Of Results ◽

Patient Portal ◽

Test Results ◽

Research Results ◽

Genetic Test Results ◽

Future Return ◽

New Research ◽

Genetic Results

Abstract Background While there have been published reports detailing technical challenges of incorporating genetic test results into the electronic health record (EHR) with proposed solutions, less has been published about unanticipated sociotechnological or practical communication challenges involved in this process. Objectives This study was aimed to describe unanticipated issues that arose returning genetic research results through the EHR as part of the National Human Genome Research Institute (NHGRI)-funded electronic Medical Records and Genomics (eMERGE) 3 consortium, and provide lessons learned for future implementations Methods We sequenced 3,000 participants on a 109-gene panel and returned genetic results initially in person and/or by letter, with a later release directly into the EHR and patient portal. Results When results were returned through the EHR, multiple participants expressed confusion and contacted the health system, resulting in our institution temporarily freezing our return of research results. Discussion We determined the likely causes of this issue to be (1) the delay between enrollment and results return, (2) inability to personalize mass e-mail messages announcing new research test results in the EHR, (3) limited space for description of test results in the EHR, and (4) the requirement to list an ordering physician for research results in the EHR. For future return of results, we propose sending preparatory e-mails to participants, including screenshots of how they can expect to see their results presented in the EHR portal. Conclusion We hope our lessons learned can provide helpful guidance to other sites implementing research genetic results into the EHR and can encourage EHR developers to incorporate greater flexibility in the future.

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Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study

PLoS ONE ◽

10.1371/journal.pone.0153597 ◽

2016 ◽

Vol 11 (4) ◽

pp. e0153597 ◽

Cited By ~ 12

Author(s):

Cara N. Cacioppo ◽

Ariel E. Chandler ◽

Meghan C. Towne ◽

Alan H. Beggs ◽

Ingrid A. Holm

Keyword(s):

Rare Disease ◽

Genetic Research ◽

Qualitative Interview ◽

Interview Study ◽

Research Results ◽

Disease Research ◽

Emotional Outcomes ◽

Qualitative Interview Study ◽

The Impact

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Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer

JCO Precision Oncology ◽

10.1200/po.17.00250 ◽

2018 ◽

pp. 1-24 ◽

Cited By ~ 2

Author(s):

Angela R. Bradbury ◽

Linda Patrick-Miller ◽

Brian L. Egleston ◽

Kara N. Maxwell ◽

Laura DiGiovanni ◽

...

Keyword(s):

Breast Cancer ◽

Cancer Susceptibility ◽

Genetic Counselor ◽

Genetic Research ◽

Informed Choice ◽

Multiple Primary Cancers ◽

Research Results ◽

Cancer Susceptibility Genes ◽

Cancer Multiple ◽

To Receive

Purpose Understanding the outcomes of returning individual genetic research results to participants is critical because some genetic variants are found to be associated with health outcomes and have become available for clinical testing. Materials and Methods BRCA1/2-negative women with early-onset breast cancer, multiple primary cancers, or a family history of breast cancer who participated in a gene discovery cancer registry were offered the opportunity to learn their individual genetic research results of 24 breast cancer susceptibility genes with a genetic counselor after predisclosure genetic counseling. Outcomes included uptake of research results, knowledge, informed choice, psychosocial adjustment, uncertainty, satisfaction, and uptake of clinical confirmation testing. Results Four hundred two potential participants were contacted. One hundred ninety-four participants (48%) did not respond despite multiple attempts, and 85 participants (21%) actively or passively declined. One hundred seven participants (27%) elected for predisclosure counseling and were more likely to be younger, married, and white. Ninety percent of participants who had predisclosure counseling elected to receive their genetic research results, and 89% made an informed choice. Knowledge increased significantly after predisclosure counseling, and anxiety, intrusive cancer-specific distress, uncertainty, and depression declined significantly after receipt of results. General anxiety and intrusive cancer-specific distress declined significantly for both participants with a positive result and those with a negative result. Sixty-four percent of participants had clinical confirmation testing when recommended, including all participants with a mutation in a high-penetrance gene. Conclusion Uptake of genetic research results may be lower than anticipated by hypothetical reports and small select studies. Participants who elected to receive research results with genetic providers did not experience increases in distress or uncertainty, but not all patients return for confirmation testing.

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Do solidarity and reciprocity obligations compel African researchers to feedback individual genetic results in genomics research?

BMC Medical Ethics ◽

10.1186/s12910-020-00549-4 ◽

2020 ◽

Vol 21 (1) ◽

Author(s):

Dimpho Ralefala ◽

Mary Kasule ◽

Ambroise Wonkam ◽

Mogomotsi Matshaba ◽

Jantina de Vries

Keyword(s):

Genetic Research ◽

Research Participation ◽

Ethical Question ◽

Group Discussions ◽

Future Studies ◽

Research Results ◽

Genomic Study ◽

Genomics Research ◽

Depth Interviews ◽

Parents And Caregivers

Abstract Background A key ethical question in genomics research relates to whether individual genetic research results should be disclosed to research participants and if so, which results are to be disclosed, by whom and when. Whilst this issue has received only scarce attention in African bioethics discourse, the extension of genomics research to the African continent has brought it into sharp focus. Methods In this qualitative study, we examined the views of adolescents, parents and caregivers participating in a paediatric and adolescent HIV-TB genomic study in Botswana on how solidarity and reciprocity obligations could guide decisions about feedback of individual genetic research results. Data were collected using deliberative focus group discussions and in-depth interviews. Results Findings from 93 participants (44 adolescents and 49 parents and caregivers) demonstrated the importance of considering solidarity and reciprocity obligations in decisions about the return of individual genetic research results to participants. Participants viewed research participation as a mutual relationship and expressed that return of research results would be one way in which research participation could be reciprocated. They noted that when reciprocity obligations are respected, participants feel valued and not respecting reciprocity expectations could undermine participant trust and participation in future studies. Conclusions We conclude that expectations of solidarity and reciprocity could translate into an obligation to feedback selected individual genetic research results in African genomics research.

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Pediatric Research and the Return of Individual Research Results

The Journal of Law Medicine & Ethics ◽

10.1111/j.1748-720x.2011.00626.x ◽

2011 ◽

Vol 39 (4) ◽

pp. 593-604 ◽

Cited By ~ 27

Author(s):

Denise Avard ◽

Karine Sénécal ◽

Parvaz Madadi ◽

Daniel Sinnett

Keyword(s):

Conflict Of Interest ◽

Ethical Issues ◽

Critical Role ◽

Pediatric Research ◽

Best Interest ◽

Vulnerable Group ◽

Potential Conflict ◽

Research Results ◽

Ethical Duty ◽

Individual Research Results

As a matter of respect for the person, it is considered an ethical duty to offer to return research results to participants where appropriate. Nevertheless, the return of individual research results to participants raises many socio-ethical issues and greater challenges when the participant is a child. This discrepancy arises partly because the return of individual pediatric research results entails a tripartite relationship between researcher, child, and parent(s) and is embroiled in numerous considerations (e.g., acting in the best interest of the child, respect for the person, and respect for the autonomy of the parents/child).Extra caution is required in the pediatric research context because children cannot generally decide (consent) whether they want to be informed of their own research results or whether the results should be disclosed to parents. Children have long been considered a special and vulnerable group, and their parents, as guardians, play a critical role in the consent process. However, with regards to the return of individual research results, this might pose a potential conflict of interest between the current or future desires of the child and those of the parents.

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