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

项目摘要IFGENERA项目2 在关于个体基因发现的反馈的讨论中有一个重要的问题 基因组学研究的背景，涉及利益相关者对研究结果的期望和偏好 反馈给谁，反馈给谁，什么时候反馈。第二个问题涉及哪些专业人士参与了 非洲的科学监管思考反馈个人基因的机遇和挑战 研究成果。在这个项目中，我们建议进行两项研究，将这些问题分成两部分进行研究 博茨瓦纳和南非的不同利益相关者社区：基因组学研究参与者和科学 监管者。我们将调查的关键问题与人们可能想知道的内容、他们为什么想要 了解这一点，以及他们希望如何收到这样的结果。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具有 获得将调解基因发现的影响的干预措施。我们的研究目标是： 目标1：探索对个体基因研究结果反馈的期望和偏好 与博茨瓦纳和南非参与基因组研究的参与者(父母)在一起。 在这一目标下，我们将与基因组学研究参与者进行审议焦点小组讨论 研究。我们研究的这个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研究项目。在博茨瓦纳，我们将让儿童的父母和 参与H3非洲咖啡馆项目的青少年。在南非，我们将让儿童的父母和 青少年参与神经发育状况的基因组研究，成年人参与 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：探讨对个体相关和附带基因研究成果反馈的看法 与参与制定、实施和应用道德标准和政策的人 返回博茨瓦纳和南非基因组学研究的个人研究结果。 在这一目标下，我们将深入采访参与开发、实施和 在博茨瓦纳的基因组研究中应用个人研究成果的伦理标准和政策 还有南非。具体地说，这将涉及对医疗保健提供者、研究人员、医生 参与基因组研究的遗传学专业人士和伦理委员会成员。

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.