scholarly journals Participants’ Preferences and Reasons for Wanting Feedback of Individual Genetic Research Results From an HIV-TB Genomic Study: A Case Study From Botswana

2021 ◽  
Vol 16 (5) ◽  
pp. 525-536
Author(s):  
Dimpho Ralefala ◽  
Mary Kasule ◽  
Olivia P. Matshabane ◽  
Ambroise Wonkam ◽  
Mogomotsi Matshaba ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Ethical Issue ◽  
Genetic Research ◽  
Research Results ◽  
Genomic Study ◽  
Genomics Research ◽  
Almost All ◽  
To Receive ◽  
Genetic Results

The feedback of individual results of genomics research is an ethical issue. However, which genetic results African participants would like to receive and why, remains unclear. A qualitative study was conducted to collect data from 44 adolescents and 49 parents/caregivers of adolescents enrolled in a genomic study in Botswana. Almost all the participants wanted to receive genetic results. Parents and caregivers wanted to receive results across all categories of genetic conditions discussed in the study, while adolescents were reluctant to receive results for severe, non-preventable, and unactionable conditions. Participants expressed different reasons for wanting feedback of results, including for awareness, improving lifestyle, accepting one’ situation, and preparing for the future. Our findings also reveal that participants’ context, relations, and empowerment are important to consider in interpreting their preferences for feedback of results.

scholarly journals Preferences and Expectations of Feedback of Individual Genetic Research Results in African Genomics: Views of South African Parents of Children With Neurodevelopmental Conditions

2020 ◽  
Author(s):  
Olivia Precious Matshabane ◽  
Cleo A Albertus ◽  
Marlyn C Faure ◽  
Dimpho Ralefala ◽  
Kirsten A Donald ◽  
...  
Keyword(s):  
South African ◽  
Genetic Research ◽  
Focus Group Discussions ◽  
Group Discussions ◽  
Research Results ◽  
Lifestyle Choices ◽  
Genomics Research ◽  
Psychological Harm ◽  
To Receive ◽  
Genetic Results

Abstract BackgroundGenomic medicine is expanding at an exponential pace across the globe and increased access to genome analysis has led to greater generations of genetic results with specific relevance to individuals. AimThis study aims to explore preferences and expectations of feedback of individual genetic research results among parents of children with neurodevelopmental conditions. MethodsFollowing a qualitative approach, we conducted four deliberative focus group discussions with (n=27) South African parents of children involved in genomics research on neurodevelopmental conditions. ResultsMost participants expressed a strong interest in receiving individual genetic results regardless of severity, actionability and preventability. These results were viewed as valuable because they could empower or emancipate individuals, families and communities. Receiving risk information was also believed to motivate healthier lifestyle choices. However, some participants were uncertain or articulated a desire not to receive results due to fears of anxiety or psychological harm. In addition, participants expected to receive results as a demonstration of respect from researchers and articulated it as an act to build trust between researchers and participants. ConclusionsInternationally, a debate continues around whether individual genetic results should or should not be fed back to participants of research studies. In Africa, there is scant literature which has investigated this question and no policies to guide researchers. This study provides a basis of empirical data on perspectives of African participants which could inform work on the development of a consolidated approach to the feedback of incidental findings in the continent.

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

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.

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

ACI Open ◽  
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.

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

2018 ◽  
pp. 1-24 ◽  
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.

scholarly journals When research seems like clinical care: a qualitative study of the communication of individual cancer genetic research results

2008 ◽  
Vol 9 (1) ◽  
Author(s):  
Fiona A Miller ◽  
Mita Giacomini ◽  
Catherine Ahern ◽  
Jason S Robert ◽  
Sonya de Laat
Keyword(s):  
Qualitative Study ◽  
Clinical Care ◽  
Genetic Research ◽  
Cancer Genetic ◽  
Research Results

scholarly journals Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways—A Case Series

2021 ◽  
Vol 11 (8) ◽  
pp. 755
Author(s):  
Iskra Peltekova ◽  
Daniela Buhas ◽  
Lara Stern ◽  
Emily Kirby ◽  
Afiqah Yusuf ◽  
...  
Keyword(s):  
Clinical Care ◽  
Genetic Research ◽  
Case Series ◽  
Routine Care ◽  
Autism Spectrum ◽  
Care Pathways ◽  
Research Results ◽  
Individualized Care ◽  
The Impact ◽  
Genetic Results

The return of genetic results (RoR) to participants, enrolled as children, in autism research remains a complex process. Existing recommendations offer limited guidance on the use of genetic research results for clinical care. We highlight current challenges with RoR and illustrate how the use of a guiding framework drawn from existing literature facilitates RoR and the clinical integration of genetic research results. We report a case series (n = 16) involving the return of genetic results to participants in large genomics studies in Autism Spectrum Disorders (ASD). We outline the framework that guided RoR and facilitated integration into clinical care pathways. We highlight specific cases to illustrate challenges that were, or could have been, resolved through this framework. The case series demonstrates the ethical, clinical and practical difficulties of RoR in ASD genomic studies for participants enrolled as children. Challenges were resolved using pre-established framework to guide RoR and incorporate research genetic results into clinical care. We suggest that optimal use of genetic research results relies on their integration into individualized care pathways for participants. We offer a framework that attempts to bridge the gap between research and healthcare in ASD.

Unselected Women's Experiences of Receiving Genetic Research Results for Hereditary Breast and Ovarian Cancer: A Qualitative Study

2021 ◽  
Vol 25 (12) ◽  
pp. 741-748
Author(s):  
Rowan Forbes Shepherd ◽  
Laura E. Forrest ◽  
Erin Tutty ◽  
Angela Pearce ◽  
Lisa Devereux ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Qualitative Study ◽  
Genetic Research ◽  
Breast And Ovarian Cancer ◽  
Research Results ◽  
Women’S Experiences ◽  
Women's Experiences

scholarly journals Return of Genetic Research Results to Participants and Families: IRB Perspectives and Roles

2015 ◽  
Vol 43 (3) ◽  
pp. 502-513 ◽  
Author(s):  
Laura M. Beskow ◽  
P. Pearl O'Rourke
Keyword(s):  
Genetic Information ◽  
Genetic Research ◽  
Family Members ◽  
Research Process ◽  
Secondary Users ◽  
Consent Forms ◽  
Research Results ◽  
Considerable Debate ◽  
The Subject ◽  
Genetic Results

Whether or not to offer individual genetic results to research participants has been the subject of considerable debate, yet consensus regarding what, when, and how to return remains elusive. Despite this lack of clarity, the discussion has moved to the offer of research results to family members of participants, including when the participant is deceased. Given the familial implications of genetic information, this extension is perhaps logical. But it raises concerns throughout the research process, including, for example, questions about disclosures and choices on consent forms, procedures for identifying and contacting family members, and how any such obligations might apply to secondary users of biospecimens and data.

scholarly journals Guideline for feedback of individual genetic research findings for genomics research in Africa

2022 ◽  
Vol 7 (1) ◽  
pp. e007184
Author(s):  
Alice Matimba ◽  
Stuart Ali ◽  
Katherine Littler ◽  
Ebony Madden ◽  
Patricia Marshall ◽  
...  
Keyword(s):  
Ethical Issues ◽  
Genetic Research ◽  
Logical Framework ◽  
Research Projects ◽  
Human Genomics ◽  
Human Heredity ◽  
Genomics Research ◽  
Research Findings ◽  
Key Issues ◽  
Genetic Results

As human genomics research in Africa continues to generate large amounts of data, ethical issues arise regarding how actionable genetic information is shared with research participants. The Human Heredity and Health in Africa Consortium (H3Africa) Ethics and Community Engagement Working group acknowledged the need for such guidance, identified key issues and principles relevant to genomics research in Africa and developed a practical guideline for consideration of feeding back individual genetic results of health importance in African research projects. This included a decision flowchart, providing a logical framework to assist in decision-making and planning for human genomics research projects. Although presented in the context of the H3Africa Consortium, we believe the principles described, and the decision flowchart presented here is applicable more broadly in African genomics research.

scholarly journals Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions (Preprint)

2017 ◽  
Author(s):  
Sara Huston Katsanis ◽  
Mollie A Minear ◽  
Azita Sadeghpour ◽  
Heidi Cope ◽  
Yezmin Perilla ◽  
...  
Keyword(s):  
Genetic Information ◽  
Research Team ◽  
Research Study ◽  
Genetic Research ◽  
Genomic Research ◽  
Active Engagement ◽  
Medical Conditions ◽  
Relevant Research ◽  
Research Results ◽  
To Receive

BACKGROUND Unlike aggregate research on groups of participants with a particular disorder, genomic research on discrete families’ rare conditions could result in data of use to families, their healthcare, as well as generating knowledge on the human genome. OBJECTIVE In a study of families seeking to rule in/out genetic causes for their children’s medical conditions via exome sequencing, we solicited their views on the importance of genomic information. Our aim was to learn the interests of parents in seeking genomic research data and to gauge their responsiveness and engagement with the research team. METHODS At enrollment, we offered participants options in the consent form for receiving potentially clinically relevant research results. We also offered an option of being a “partner” versus a “traditional” participant; partners could be re-contacted for research and study activities. We invited adult partners to complete a pre-exome survey, attend annual family forums, and participate in other inter-family interaction opportunities. RESULTS Of the 385 adults enrolled, 79% opted for “partnership” with the research team. Nearly all (99.2%) participants opted to receive research results pertaining to their children’s primary conditions. A majority indicated the desire to receive additional clinically relevant outside the scope of their children’s conditions (92.7%) and an interest in non-clinically relevant genetic information (82.7%). CONCLUSIONS Most participants chose partnership, including its rights and potential burdens; however, active engagement in study activities remained the exception. Not surprisingly, the overwhelming majority of participants—both partners and traditional—expected to receive all genetic information resulting from the research study.

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