The Ethics of Inclusion: Diversity in Precision Medicine Research

项目摘要 精准医学研究面临的一个主要挑战是将历史上代表性不足的群体纳入其中。 数量足以确保相关风险因素影响的统计学有效推断， 包括基因对疾病风险的贡献。精准医学研究人员已经认识到， 我们认识到迫切需要加强多样性，并已实施了各种各样的方法来实现这一目标。 然而，所有这些方法都取决于利益相关者对什么样的多样性的理解。 问题，当地的后勤限制下，精准医学研究实际上是 以及社区对这些做法的反应。调查这些复杂的 从精准医学研究的多个利益相关者的角度来看， 有效解决基因组和相关形式的精准医学长期存在的不平等问题 research.该应用程序旨在利用当前多样性和包容性的激增 实践，研究其异质性，共性，以及对多样化参与的影响， 精准医学研究我们将通过对PMR研究的深入分析来确定 多样性的定义等概念（如遗传祖先标记、自我报告的种族和 种族）影响实践，如保留，参与和结果返回。走一条生命之路 从研究关系的角度来看，我们的目标是评估如何实现多样性的方法， 包容性是与其他研究目标和具体权衡的影响一起管理的 这个结果。为了达到我们的研究目标，我们将实现以下目标：（1）确定科学和 包容性目标的社会政治理由和精确多样性的概念定义 （2）确定科学、社会和技术因素如何影响医学研究; 在精准医学研究中实施多样性和包容性;以及（3） 让利益相关者参与创建基于数据的指导，描述 精准医学研究中的多样性和包容性决策和实践。

PROJECT SUMMARY A major challenge for precision medicine research is including historically under-represented groups in numbers sufficient to ensure statistically valid inferences of the influence of relevant risk factors, including genetic contributions to disease risk. Precision medicine researchers have recognized the critical need to enhance diversity and have implemented a wide variety of approaches to achieve this. All such approaches, however, are shaped by stakeholders’ understandings of what kinds of diversity matter, the local logistical constraints under which precision medicine research is actually being conducted, and the responses of communities to those approaches. Investigating these complex factors from the perspectives of multiple stakeholders in precision medicine research will be essential to effectively address longstanding inequities in genomic and related forms of precision medicine research. This application seeks to take advantage of the current proliferation of diversity and inclusion practices to study their heterogeneity, commonalities, and effects on diversifying participation in precision medicine research. We will determine through in-depth analyses of PMR studies how concepts such as definitions of diversity (e.g. genetic ancestry markers, self-reported race and ethnicity) impact practices such as retention, engagement, and return of results. Taking a lifecourse perspective to research relationships, we aim to assess how approaches towards diversity and inclusion are managed in tandem with other research goals and the implications of specific trade-offs that result. To achieve our study objectives, we will fulfill the following aims: (1) identify scientific and sociopolitical justifications for goals of inclusion and conceptual definitions of diversity in precision medicine research; (2) determine how scientific, social and technical factors influence the operationalization of diversity and implementation of inclusion in precision medicine research; and (3) engage stakeholders to create data-informed guidance that describes the strengths and weaknesses of diversity and inclusion decisions and practices in precision medicine research.