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

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.

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

Journal of Empirical Research on Human Research Ethics ◽

10.1177/15562646211043985 ◽

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.

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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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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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Sexual and reproductive health of Syrian refugee adolescent girls: a qualitative study using focus group discussions in an urban setting in Lebanon

Reproductive Health ◽

10.1186/s12978-021-01178-9 ◽

2021 ◽

Vol 18 (1) ◽

Author(s):

Rayan Korri ◽

Sabine Hess ◽

Guenter Froeschl ◽

Olena Ivanova

Keyword(s):

Focus Group ◽

Reproductive Health ◽

Sexual Harassment ◽

Qualitative Study ◽

Adolescent Girls ◽

Sexual And Reproductive Health ◽

Urban Setting ◽

Focus Group Discussions ◽

Group Discussions ◽

To Receive

Abstract Background The war in Syria caused the forced displacement of millions of Syrians to neighboring countries. Lebanon is the host country with the largest overall number of Syrian refugees per capita. Adolescent refugee girls experience a unique level of vulnerability during human emergencies and are at increased risk of suffering from poor sexual and reproductive health (SRH) outcomes. We conducted an exploratory qualitative study to learn about the SRH perceptions and experiences of refugee adolescent girls living in Bourj Hammoud, an urban setting in Lebanon. Methods We employed a qualitative design with eight focus group discussions (FGDs) conducted with 40 Syrian Arab and Syrian Kurdish adolescent girls between January and March 2020. Every FGD consisted of five participants aged 13 to 17 years. A semi-structured guide was used covering multiple themes: menstruation, puberty, SRH awareness, and sexual harassment. FGDs were transcribed and analyzed using thematic analysis. Findings The participants discussed adolescent girls’ health and named six elements of good health, such as healthy activities and self-protection. The majority of the FGD participants reported a lack of awareness about menstruation when they experienced it for the first time and the social stigma associated with menstruation. When defining puberty, they indicated its social link to a girl’s readiness for marriage and her need to become cautious about sexual harassment. Most FGD participants had very poor knowledge of the female reproductive system. Mothers were the most approached persons to receive information on SRH issues; however, the girls indicated a wish to receive advice from specialists in a comfortable and private atmosphere. All the girls reported that either they themselves, or an acquaintance, had experienced some type of sexual harassment. The girls rarely reported those incidents due to fear of being blamed or subjected to mobility restrictions, or forced to drop out of school. Conclusions The findings show the refugee girls need for satisfactory knowledge on SRH issues and interventions to prevent sexual and gender-based violence that take into consideration the complexity of urban settings.

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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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Using the South African Triage Scale for prehospital triage: a qualitative study

BMC Emergency Medicine ◽

10.1186/s12873-021-00522-3 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Julia Dixon ◽

Taylor Burkholder ◽

Jennifer Pigoga ◽

Michael Lee ◽

Kubendhren Moodley ◽

...

Keyword(s):

Focus Group ◽

Qualitative Study ◽

South African ◽

Emergency Care ◽

Prehospital Emergency Care ◽

Focus Group Discussions ◽

Group Discussions ◽

Prehospital Triage ◽

Prehospital Emergency ◽

Hospital Resources

Abstract Background Triage is a critical component of prehospital emergency care. Effective triage of patients allows them to receive appropriate care and to judiciously use personnel and hospital resources. In many low-resource settings prehospital triage serves an additional role of determining the level of destination facility. In South Africa, the Western Cape Government innovatively implemented the South African Triage Scale (SATS) in the public Emergency Medical Services (EMS) service in 2012. The prehospital provider perspectives and experiences of using SATS in the field have not been previously studied. Methods In this qualitative study, focus group discussions with cohorts of basic, intermediate and advanced life support prehospital providers were conducted and transcribed. A content analysis using an inductive approach was used to code transcripts and identify themes. Results 15 EMS providers participated in three focus group discussions. Data saturation was reached and four major themes emerged from the qualitative analysis: Implementation and use of SATS; Effectiveness of SATS; Limitations of the discriminator; and Special EMS considerations. Participants overall felt that SATS was easy to use and allowed improved communication with hospital providers during patient handover. Participants, however, described many clinical cases when their clinical gestalt triaged the patient to a different clinical acuity than generated by SATS. Additionally, they stated many clinical discriminators were too subjective to effectively apply or covered too broad a range of clinical severity (e.g., ingestions). Participants provided examples of how the prehospital environment presents additional challenges to using SATS such as changing patient clinical conditions, transport times and social needs of patients. Conclusions Overall, participants felt that SATS was an effective tool in prehospital emergency care. However, they described many clinical scenarios where SATS was in conflict with their own assessment, the clinical care needs of the patient or the available prehospital and hospital resources. Many of the identified challenges to using SATS in the prehospital environment could be improved with small changes to SATS and provider re-training.

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Iterative Adaptation of a Maternal Nutrition Videos mHealth Intervention Across Countries Using Human-Centered Design: Qualitative Study (Preprint)

10.2196/preprints.13604 ◽

2019 ◽

Author(s):

Jasmin Isler ◽

N Hélène Sawadogo ◽

Guy Harling ◽

Till Bärnighausen ◽

Maya Adam ◽

...

Keyword(s):

Focus Group ◽

Qualitative Study ◽

South African ◽

Maternal Nutrition ◽

Health Workers ◽

Video Adaptation ◽

Focus Group Discussions ◽

Group Discussions ◽

Human Centered Design ◽

Depth Interviews

BACKGROUND Mobile health (mHealth) video interventions are often transferred across settings. Although the outcomes of these transferred interventions are frequently published, the process of adapting such videos is less described, particularly within and across lower-income contexts. This study fills a gap in the literature by outlining experiences and priorities adapting a suite of South African maternal nutrition videos to the context of rural Burkina Faso. OBJECTIVE The objective of this study was to determine the key components in adapting a suite of maternal nutrition mHealth videos across settings. METHODS Guided by the principles of human-centered design, this qualitative study included 10 focus group discussions, 30 in-depth interviews, and 30 observations. We first used focus group discussions to capture insights on local nutrition and impressions of the original (South African) videos. After making rapid adjustments based on these focus group discussions, we used additional methods (focus group discussions, in-depth interviews, and observations) to identify challenges, essential video refinements, and preferences in terms of content delivery. All data were collected in French or Dioula, recorded, transcribed, and translated as necessary into French before being thematically coded by two authors. RESULTS We propose a 3-pronged Video Adaptation Framework that places the aim of video adaptation at the center of a triangle framed by end recipients, health workers, and the environment. End recipients (here, pregnant or lactating mothers) directed us to (1) align the appearance, priorities, and practices of the video’s protagonist to those of Burkinabe women; (2) be mindful of local realities whether economic, health-related, or educational; and (3) identify and routinely reiterate key points throughout videos and via reminder cards. Health workers (here, Community Health Workers and Mentor Mothers delivering the videos) guided us to (1) improve technology training, (2) simplify language and images, and (3) increase the frequency of their engagements with end recipients. In terms of the environment, respondents guided us to localize climate, vegetation, diction, and how foods are depicted. CONCLUSIONS Design research provided valuable insights in terms of developing a framework for video adaptation across settings, which other interventionists and scholars can use to guide adaptations of similar interventions.

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Using the Drama of DNA approach to community engagement in genomic research in South Africa: experiences and lessons learnt

AAS Open Research ◽

10.12688/aasopenres.13045.1 ◽

2020 ◽

Vol 3 ◽

pp. 1

Author(s):

Marlyn C. Faure ◽

Ambroise Wonkam ◽

Jantina De Vries

Keyword(s):

South Africa ◽

Community Engagement ◽

South African ◽

Genetic Research ◽

Genomic Research ◽

Ethical Challenges ◽

Social Challenges ◽

The Public ◽

Genomics Research ◽

Local Contexts

In the context of African genomics research, community engagement has emerged as a powerful means to enhance genomic education of the public and anticipate ethical challenges in relation to increasing genomic research on the African continent. We report our experiences of using narrative genomics, a drama-based community engagement method, to engage scientific and lay communities about ethical and social challenges related to the return of individual genetic research results in genomic research. The method uses set scripts, which audience members act out and thereafter engage in a series of ethical dilemmas presented in the script. In this paper, we describe the steps we took to change the original scripts to make them more suitable for a South African audience. We found the method to be relatively effective at engaging audiences in South Africa. While the changes in the South African versions appear minor, through our experience in trying to change the scripts to make them relatable to a South African audience, we observed that were limits to how much of the script we could change if the narrative was still to be effective as a community engagement method. While this method and the original scripts are incredibly helpful, new scripts must be developed for African audiences, and these could potentially be more impactful as a community engagement tool in different local contexts.

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

Journal of Personalized Medicine ◽

10.3390/jpm11080755 ◽

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.

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How is Clinical Trial Reimbursement Money Spent? South African Trial Participants’ Reported Reimbursement Spending Patterns and Perceptions of Appropriate Reimbursement Amounts

AIDS and Behavior ◽

10.1007/s10461-021-03418-2 ◽

2021 ◽

Author(s):

Cecilia Milford ◽

Tammany Cavanagh ◽

Yolandie Ralfe ◽

Virginia Maphumulo ◽

Mags Beksinska ◽

...

Keyword(s):

South African ◽

Risk Minimization ◽

Focus Group Discussions ◽

Group Discussions ◽

Mixed Methods Approach ◽

Spending Patterns ◽

Kwazulu Natal ◽

Reimbursement Amount ◽

Trial Participants ◽

The Ideal

AbstractReimbursement of participants in clinical trials is extensively debated. Guidance recommends that compensation should reflect time, inconvenience and reimbursement of expenses. This study describes how participants spend their reimbursement and perceptions of appropriate reimbursement amounts. This was a sub-study of the evidence for contraceptive options and HIV outcomes (ECHO) trial. Participants were from two sites in KwaZulu-Natal, South Africa. A mixed methods approach was used. 500 participants completed a questionnaire, and 32 participated in one of four focus group discussions (FGD). The majority (81%) used reimbursement for transport to the research site, followed by toiletry purchases (64%). Many described how reimbursement supplemented income, used to cover basic living costs. Some used money to buy luxury items and takeaway foods. The ideal reimbursement amount per visit ranged: ZAR150-ZAR340 (US$10–24). Reimbursement spending and perceptions are in line with local guidance. Reimbursement should consider risk minimization together with ensuring informed, voluntary decision making.

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