Prospective analysis of stakeholder expectations and preferences for Feedback of Individual Genetic Findings in genomics research in Botswana and South Africa

项目概要IFGENERA项目2 围绕个人遗传发现反馈的讨论中的一个重要问题是 基因组学研究的背景，涉及利益相关者的期望和偏好， 反馈给谁，由谁反馈，何时反馈。第二个问题涉及哪些专业人员参与了 非洲的科学监管思考反馈个体基因的机会和挑战 研究结果。在这个项目中，我们建议进行两项研究，分两个阶段调查这些问题。 博茨瓦纳和南非的不同利益攸关方社区：基因组学研究参与者和科学 监管部门我们将调查的关键问题涉及人们可能想知道什么，为什么他们想知道， 他们知道这一点，以及他们希望得到什么样的结果。其他问题涉及研究结果是否 需要在诊断实验室进行验证，以及收到结果的参与者是否具有 获得干预措施，将介导遗传发现的影响。我们的研究目标是： 目的1：探讨对个体遗传学研究结果反馈的期望和偏好 与参与博茨瓦纳和南非基因组学研究的参与者（父母）进行了交流。 在这个目标下，我们将与基因组学的研究参与者进行审议焦点小组讨论 research.我们研究的这一部分将在博茨瓦纳的哈博罗内和南非的开普敦进行， 利用三个正在进行的基因组学研究项目。在博茨瓦纳，我们将让儿童的父母参与进来， 参与H3Africa CafGen项目的青少年。在南非，我们将让儿童的父母参与进来， 参与神经发育条件基因组学研究的青少年， 精神疾病（精神分裂症和双相情感障碍）的精神基因组学研究。 目的2：探讨对个体相关性和偶然性遗传学研究结果反馈的看法 与参与制定、实施和应用道德标准和政策的人员， 博茨瓦纳和南非基因组学研究的个人研究结果的回报。 在这一目标下，我们将对参与制定、实施和 在博茨瓦纳基因组学研究中应用伦理标准和政策返还个人研究结果 和南非。具体来说，这将涉及与医疗保健提供者，研究人员，医疗 参与基因组学研究的遗传学专业人员和伦理委员会成员。

Project Summary IFGENERA Project 2 One important question in discussions around the feedback of individual genetic findings generated in the context of genomics research, relates to stakeholder expectations of and preferences for which findings are to be fed back, to and by whom, and when. A second question relates to what professionals involved in the regulation of science in Africa think about opportunities for and challenges in feeding back individual genetic research findings. In this project, we propose to conduct two studies that investigate these issues in two different stakeholder communities in Botswana and South Africa: genomics research participants and science regulators. Key questions that we will investigate relate to what people may want to know, why they want to know it, and how they would like to receive such results. Other questions relate to whether research results need to be verified in a diagnostic laboratory, and how important it is that participants who receive results, have access to the interventions that would mediate the effects of the genetic finding. Our study aims are: Aim 1: To explore expectations and preferences for feedback of individual genetic research findings with (parents of) participants involved in genomics research in Botswana and South Africa. Under this aim, we will conduct deliberative Focus Group Discussions with research participants in genomics research. This component of our study will take place in Gaborone, Botswana and Cape Town, South Africa, using three ongoing genomics research projects. In Botswana, we will involve parents of children and adolescents involved in the H3Africa CafGen project. In South Africa, we will involve parents of children and adolescents involved in genomics research on neurodevelopmental conditions, and adults involved in psychiatric genomics research on psychiatric disorders (schizophrenia and bi-polar disorder). Aim 2: To explore the views on feedback of individual pertinent and incidental genetic research results with people involved in developing, implementing and applying ethical standards and policies for return of individual study results in genomics research in Botswana and South Africa. Under this aim, we will conduct in-depth interviews with people involved in developing, implementing and applying ethical standards and policies for return of individual study results in genomics research in Botswana and South Africa. Specifically, this will involve interviews with healthcare providers, researchers, medical genetics professionals and members of ethics committees involved in genomics research.