Diedericks Angelique, Bruwer Zandré, Laing Nakita, Eastman Emma, De Vries Jantina De Vries, Donald Kirsten A, Robinson Elise B, Newton Charles R, Abubakar Amina
Human Genetics, Department of Medicine, University of Cape Town, Groote Schuur Hospital.
Department of Paediatrics & Child Health, Red Cross War Memorial Children's Hospital and University of Cape Town.
Res Sq. 2024 Jun 11:rs.3.rs-4448155. doi: 10.21203/rs.3.rs-4448155/v1.
Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As understanding participant preferences would be pivotal to the success of the feedback process, this study set out to address this issue by engaging with enrolled participants from an ongoing genomics research project on neurodevelopmental disorders with the aim to assess the anticipated impact of receiving pertinent results and explore the preferences for feedback in a South-African context. Twelve semi-structured interviews were conducted with 17 parents of children participating in the research study. Transcribed interview data and observational notes were analysed using thematic analysis and framework matrices. Participants linked their own meaning to the impact of receiving a pertinent result and perceived the information as useful for reasons other than only clinical utility. These included closure, improved management of their child's condition and information regarding recurrence risks. In terms of preferences for feedback, an in-person result delivery session, conducted by a member of the study team or medical professional familiar with their child was preferred. In addition, participants felt a sense of ownership over their blood or their contribution to the research study, finding meaning even in non-pertinent (secondary findings) or negative results. These findings provide insight into the type of discussions that may be valuable in enabling the development of best practices and guidelines for the return of individual genetic research results, in a culturally appropriate manner, within South-African communities.
关于向非洲的研究参与者披露基因组结果，相关政策和研究很少。由于了解参与者的偏好对于反馈过程的成功至关重要，本研究旨在通过与一个正在进行的神经发育障碍基因组研究项目的登记参与者进行交流来解决这一问题，目的是评估收到相关结果的预期影响，并在南非背景下探索反馈偏好。对参与该研究的17名儿童的父母进行了12次半结构化访谈。使用主题分析和框架矩阵对转录的访谈数据和观察笔记进行了分析。参与者将他们自己的意义与收到相关结果的影响联系起来，并认为这些信息不仅对临床有用，还有其他用途。这些用途包括了结、改善对孩子病情的管理以及关于复发风险的信息。在反馈偏好方面，参与者更喜欢由熟悉他们孩子情况的研究团队成员或医学专业人员进行面对面的结果传达会议。此外，参与者对自己的血液或对研究的贡献有一种主人翁意识，即使在不相关（次要发现）或负面结果中也能找到意义。这些发现为在南非社区以文化适宜的方式制定关于返还个人基因研究结果的最佳实践和指南的讨论类型提供了见解。
