Practical and Ethical considerations for the return of individual genetic research findings from WES studies

项目概要IFGeneRA项目3 虽然非洲基因组学研究中个人遗传研究结果的反馈方法是 在不断变化的情况下，有一些重要的实际和道德挑战需要考虑， 非洲基因组学研究人员可以制定有意义的基因组回报政策。这与缺席有关。 清楚地了解a）问题的范围，B）退货政策对研究的财务影响， 以及c）资源限制对研究者返回研究的义务的影响的规范性说明 结果在我们合作中心的这个组成部分中，我们将联合收割机生物信息学、卫生经济学和 规范性伦理调查，以更深入地了解范围，可能的影响和规范性义务， 反馈非洲基因组学研究中的个体遗传发现。此外，为了使 在整个合作中心的工作中，我们将进行一项全大陆范围的调查研究， 整合所有三个项目的见解，以探索其更广泛的可接受性。我们的研究目标如下： 目标1：就返回决定的范围和可能的财务影响提供实际证据 向喀麦隆和博茨瓦纳的基因组学研究参与者提供个人基因研究成果。 根据目标1，我们将遵循分阶段研究设计，以a）生成可报告的致病性发现列表 与非洲人群相关，B）探索在现有的H3非洲WES中发现这些变体的频率 数据集，以及c）调查反馈这些调查结果将对两个 基因组研究 目标2：制定一个规范性的责任，以（不）反馈个人的遗传发现， 低收入和中等收入国家的研究人员以及这些义务如何在 资源有限的医疗保健和研究环境。 在目标2下，我们将进行文献研究，然后进行规范分析，以了解伦理 为非洲研究人员返回研究成果的义务。 目标3：探讨参与制定、实施或应用 非洲大陆的成果政策，借鉴IFGeneRA所有项目的研究结果 ELSI合作中心。 根据目标3，我们将根据IFGeneRA项目（1- 3），并将此调查发送给整个非洲大陆的相关利益攸关方。

Project Summary IFGeneRA Project 3 Whilst approaches to the feedback of individual genetic research results in African genomics research are changing, there are a number of important practical and ethical challenges that need to be considered before African genomics researchers can develop meaningful genomic returns policies. These relate to the absence of a clear understanding of a) the scope of the problem, b) the financial impact of a returns policy on research, and c) a normative account of the impact of resource restrictions on researcher obligations to return study results. In this component of our Collaborative Centre, we combine bioinformatics, health economics and normative ethical enquiry to generate greater insight into the scope, likely impact, and normative obligations for feeding back individual genetic findings in African genomics research. In addition, and in an attempt to bring together the work of the entire Collaborative Centre, we will conduct a continent-wide survey study in which we integrate insights from all three projects to explore their wider acceptability. Our study aims are the following: Aim 1: to generate practical evidence about the scope and likely financial impact of decisions to return individual genetic research results to participants in genomics research in Cameroon and Botswana. Under Aim 1, we will follow a staged research design to a) generate a list of reportable pathogenic findings pertinent to African populations, b) explore how often these variants are found in existing H3Africa WES datasets, and c) investigate the budget implications that feeding back these findings would have for two genomic studies. Aim 2: to develop a normative account of obligations to (not) feedback individual genetic findings for researchers in low- and middle income countries and how these obligations play out in the context of resource-restrained healthcare and research settings. Under Aim 2, we will conduct a literature study followed by normative analysis to understand the ethical obligations for returning results for research for African researchers. Aim 3: To explore the views of people involved in developing, implementing or applying return of results policies across the African continent, drawing on the findings from all projects in the IFGeneRA ELSI Collaborative Centre. Under Aim 3, we will develop a survey based on the insights generated throughout the IFGeneRA projects (1- 3), and send this survey to pertinent stakeholders across the African continent.