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

项目摘要IFGeneRA项目3 虽然在非洲基因组研究中反馈个体基因研究结果的方法是 在变化中，有许多重要的现实和伦理挑战需要在 非洲基因组学研究人员可以制定有意义的基因组退货政策。这些都与缺席有关 清楚地了解a)问题的范围，b)退货政策对研究的财务影响， 和c)关于资源限制对研究人员返回研究义务的影响的规范性说明 结果。在我们协作中心的这个组成部分中，我们结合了生物信息学、卫生经济学和 规范伦理调查，以更深入地了解以下问题的范围、可能的影响和规范义务 反馈非洲基因组研究中的个体基因发现。此外，并试图使 在整个协作中心的共同努力下，我们将进行一项全大陆的调查研究，在这项研究中，我们 综合所有三个项目的见解，探索其更广泛的可接受性。我们的研究目标如下： 目标1：就遣返决定的范围和可能的财务影响产生实际证据 向喀麦隆和博茨瓦纳的基因组研究参与者提供个人基因研究成果。 在目标1下，我们将遵循阶段性研究设计，以a)生成可报告的病原学发现列表 与非洲人口有关，b)探索在现有的H3非洲WE中发现这些变异的频率 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：制定关于(不)反馈个人基因发现的义务的规范性说明 低收入和中等收入国家的研究人员以及这些义务如何在以下背景下发挥作用 资源受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 非洲研究人员退回研究成果的义务。 目标3：探讨参与开发、实施或应用报税表的人员的意见 非洲大陆的成果政策，借鉴了IFGeneRA所有项目的调查结果 ELSI协作中心。 在目标3下，我们将根据在整个IFGeneRA项目中产生的见解制定一项调查(1- 3)，并将本调查发送给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.