Makerere University School of Biomedical Sciences, Kampala, Uganda.
Centre for Medical Ethics and Law, Faculty of Medicine and Health Sciences, Stellenbosch University, Stellenbosch, South Africa.
PLoS One. 2022 Nov 18;17(11):e0267375. doi: 10.1371/journal.pone.0267375. eCollection 2022.
Genetics and genomics research (GGR) is associated with several challenges including, but not limited to, methods and implications of sharing research findings with participants and their family members, issues of confidentiality, and ownership of data obtained from samples. Additionally, GGR holds significant potential risk for social and psychological harms. Considerable research has been conducted globally, and has advanced the debate on return of genetic and genomics testing results. However, such investigations are limited in the African setting, including Uganda where research ethics guidance on return of results is deficient or suboptimal at best. The objective of this study was to assess perceptions of grassroots communities on if and how feedback of individual genetics and genomics testing results should occur in Uganda with a view to improving ethics guidance.
This was a cross-sectional study that employed a qualitative exploratory approach. Five deliberative focus group discussions (FGDs) were conducted with 42 participants from grassroots communities representing three major ethnic groupings. These were rural settings and the majority of participants were subsistence farmers with limited or no exposure to GGR. Data were analysed through thematic analysis, with both deductive and inductive approaches applied to interrogate predetermined themes and to identify any emerging themes. NVivo software (QSR international 2020) was used to support data analysis and illustrative quotes were extracted.
All the respondents were willing to participate in GGR and receive feedback of results conditional upon a health benefit. The main motivation was diagnostic and therapeutic benefits as well as facilitating future health planning. Thematic analysis identified four themes and several sub-themes including 1) the need-to-know health status 2) paternity information as a benefit and risk; 3) ethical considerations for feedback of findings and 4) extending feedback of genetics findings to family and community.
Participation in hypothetical GGR as well as feedback of results is acceptable to individuals in grassroots communities. However, the strong therapeutic and/or diagnostic misconception linked to GGR is concerning given that hopes for therapeutic and/or diagnostic benefit are unfounded. Viewing GGR as an opportunity to confirm or dispute paternity was another interesting perception. These findings carry profound implications for consent processes, genetic counselling and research ethics guidance. Privacy and confidentiality, benefits, risks as well as implications for sharing need to be considered for such feedback of results to be conducted appropriately.
遗传学和基因组学研究（GGR）面临着许多挑战，包括但不限于与参与者及其家庭成员分享研究结果的方法和影响、保密性问题以及从样本中获得的数据的所有权。此外，GGR 对社会和心理伤害有很大的潜在风险。全球已经进行了大量的研究，并推动了关于遗传和基因组检测结果回报的辩论。然而，这种调查在非洲背景下是有限的，包括乌干达，那里关于结果回报的研究伦理指导充其量是不足或不理想的。本研究的目的是评估基层社区对个体遗传学和基因组学检测结果是否以及如何在乌干达进行反馈的看法，以期改进伦理指导。
这是一项横断面研究，采用定性探索方法。与来自基层社区的 42 名参与者进行了五次深思熟虑的焦点小组讨论（FGD），代表了三个主要的族群。这些都是农村环境，大多数参与者都是自给自足的农民，接触 GGR 的机会有限或没有。通过主题分析对数据进行分析，应用演绎和归纳方法来询问预定的主题，并确定任何新出现的主题。使用 NVivo 软件（QSR international 2020）支持数据分析，并提取说明性引述。
所有受访者都愿意参与 GGR 并在有健康益处的条件下接收结果反馈。主要动机是诊断和治疗益处以及促进未来的健康规划。主题分析确定了四个主题和几个子主题，包括 1）了解健康状况的必要性 2）作为利益和风险的亲子信息 3）反馈结果的伦理考虑 4）将遗传结果的反馈扩展到家庭和社区。
基层社区的个人对参与假设性 GGR 以及结果反馈是可以接受的。然而，与 GGR 相关的强烈治疗和/或诊断误解令人担忧，因为对治疗和/或诊断益处的希望是没有根据的。将 GGR 视为确认或质疑亲子关系的机会是另一个有趣的看法。这些发现对同意过程、遗传咨询和研究伦理指导具有深远的意义。为了适当进行这种结果反馈，需要考虑隐私和保密性、利益、风险以及共享的影响。
