Gafa Grace Larbie, Boima Vincent, Rockson Isabella, Chatio Samuel T, Ghansah Anita, Salako Babatunde L, Ojo Akinlolu, Tindana Paulina Onvomaha, Adu Dwomoa
H3-Africa Kidney Disease Research Network, University of Ghana, Korle- bu, Accra, Ghana.
Department of Medicine and Therapeutics, College of Health Sciences, University of Ghana Medical School, University of Ghana, Accra, Ghana.
BMC Nephrol. 2025 Jul 8;26(1):366. doi: 10.1186/s12882-025-04295-w.
There is evidence that variants of the Apolipoprotein L1 gene in Africans and people of African descent increase the risk of developing chronic kidney disease (CKD). A study conducted by the H3Africa Kidney Disease Research Network showed that 28.2% of the Ghanaian study population carried 2 APOL1 high-risk variants. Relatives of patients with CKD may be at increased risk of developing CKD. Researchers of this project are faced with an ethical dilemma of whether, study participants and their relatives should be informed about their risk of developing CKD. The aim of this study was to investigate perspectives of research participants and other research stakeholders on returning individual genetic findings and aggregate results related to the kidney disease research at the Korle Bu Teaching Hospital in the Greater Accra Region of Ghana.
This study was conducted under the auspices of the H3Africa Community Engagement and Biobanking in Genomics collaborative project. An exploratory qualitative approach was employed utilising in-depth interviews, focus group discussions and deliberative workshops. Participants included genomic researchers, research participants, family members and members of the research ethics committee affiliated with the Korle-Bu Teaching Hospital and the Ghana Health Service in Accra, Ghana. Thematic analysis was performed using NVivo qualitative analysis software (version 12) to examine perspectives on what results to return, who should receive these results and how they should be communicated.
There was consensus among the key stakeholders interviewed that both validated individual genetic results and aggregate results from the kidney disease research should be communicated to research participants and their relatives, as well as aggregate research results to communities. Most research participants expressed a preference for receiving individual genetic results through direct communication from a medical doctor or research scientist. Participants also suggested the use of traditional media to communicate aggregate results to broader communities.
The study concludes that there are compelling reasons for communicating both individual and aggregate genetic research results related to kidney disease research with participants, their relatives and communities. More efforts should be invested in educating research participants, families and communities about the risks associated with the APOL1 risk variants prior to returning these results. Additionally, research teams should explore innovative communication strategies to support the feedback process and to promote public engagement in genetic and genomic research.
Not applicable.
有证据表明，非洲人和非洲裔人群中载脂蛋白L1基因的变异会增加患慢性肾脏病（CKD）的风险。H3非洲肾脏疾病研究网络开展的一项研究显示，加纳研究人群中有28.2%携带2个APOL1高风险变异。CKD患者的亲属患CKD的风险可能会增加。该项目的研究人员面临着一个伦理困境，即是否应告知研究参与者及其亲属他们患CKD的风险。本研究的目的是调查加纳大阿克拉地区科勒布教学医院的研究参与者和其他研究利益相关者对于返回与肾脏疾病研究相关的个体基因结果和汇总结果的看法。
本研究在H3非洲基因组学社区参与和生物样本库合作项目的支持下进行。采用探索性定性研究方法，运用深度访谈、焦点小组讨论和审议研讨会。参与者包括基因组研究人员、研究参与者、家庭成员以及与加纳阿克拉的科勒布教学医院和加纳卫生服务机构相关的研究伦理委员会成员。使用NVivo定性分析软件（版本12）进行主题分析，以研究关于返回哪些结果、谁应接收这些结果以及应如何传达这些结果的看法。
接受访谈的主要利益相关者达成共识，即经过验证的个体基因结果和肾脏疾病研究的汇总结果都应传达给研究参与者及其亲属，汇总研究结果也应传达给社区。大多数研究参与者表示倾向于通过医生或研究科学家直接沟通来接收个体基因结果。参与者还建议使用传统媒体将汇总结果传达给更广泛的社区。
该研究得出结论，有令人信服的理由向参与者、他们的亲属和社区传达与肾脏疾病研究相关的个体和汇总基因研究结果。在返回这些结果之前，应投入更多努力对研究参与者、家庭和社区进行教育，使其了解与APOL1风险变异相关的风险。此外，研究团队应探索创新的沟通策略，以支持反馈过程并促进公众参与基因和基因组研究。
不适用。
