Beyond the Medical: The ELSI of Polygenic Scores for Social Traits

7.项目摘要/摘要 在传统的预测性基因测试中，单基因变异被分析以确定个体是否 罹患疾病的风险很高。然而，绝大多数疾病是多基因的--由许多因素引起 不同的基因。多基因风险评分(PR)因其可预测这些疾病的风险而备受关注 通过测量数百或数千种疾病的贡献，如心脏病或糖尿病 一次产生基因变异。然而，除了对健康或医疗结果的预测外，社会基因组学的领域是 发展中的多基因评分(PGS)衡量遗传对社会特征和行为因素的贡献，如 收入、教育程度、性取向和乐观主义。社会基因组PGS的支持者引用了 这项研究有可能增加对遗传和环境之间相互作用的理解 因素，在社会科学研究中考虑遗传因素，并创建个性化的社会干预 类似于个性化医疗。但其他人担心，社会基因组PGS的发现可能会导致歧视 以及现有社会差距的加剧。为了理解道德、法律和社会 社会基因组PGS研究的意义及其结果，本项目涉及以下研究 问：1)目前社会基因组PGS的发展趋势是什么？可能的 得分在社会环境中的应用？2)不同的利益相关者如何看待 社会基因组PGS？；以及3)现有的法律、政策或治理对潜在的 社会基因组PGS的危害，同时也促进了它们的潜在好处？回答这些问题需要 既有实证研究，也有法律分析。使用地平线扫描方法，Aim 1绘制了地貌 社会基因组PGS，它们的潜在应用，以及如何将社会基因组研究成果提交给 并被公众消费。AIM 2招募了那些参与社会基因组学研究(Biobank)的人 其基因数据可能被用于发展PGS的参与者，制定分数的PGS研究人员，以及 可以在研究中使用分数的社会科学家)来检查和评估他们对 社会基因组PGS的危害和益处的范围，以及PGS的不同应用的含义。 这两项工作都将为目标3提供信息，目标3包括对当前法律规则如何 防止潜在的滥用和/或促进社会基因组学发现的可能好处。的产品 该项目将是一组案例研究，旨在帮助政策制定者和研究人员预测和缓解 在各种社会环境中使用社会基因组PGS的潜在危害，同时仍然识别和 最大限度地提高潜在利益。

7. PROJECT SUMMARY/ ABSTRACT In traditional predictive genetic testing single gene variants are analyzed to determine whether an individual is at high risk of developing a disease. The vast majority of diseases, however, are polygenic—caused by many different genes. Polygenic risk scores (PRS) have been heralded for their promise to predict risk for these more complex diseases like heart disease or diabetes by measuring the contribution of hundreds or thousands of genetic variants at once. Yet beyond prediction of health or medical outcomes, the realm of `sociogenomics' is developing polygenic scores (PGS) measuring genetic contributions to social traits and behavioral factors, such as income, educational attainment, sexuality, and optimism. Proponents of sociogenomic PGS cite the potential for this research to increase understanding of the interplay between genetic and environmental factors, to account for genetic factors in social science research, and to create personalized social interventions akin to personalized medicine. But others worry that sociogenomic PGS findings could lead to discrimination and an exacerbation of existing social disparities. In order to understand the ethical, legal, and social implications of sociogenomic PGS research and its outcomes, this project addresses the following research questions: 1) What are the current trends in the development of sociogenomic PGS and what are the possible applications of scores in social settings?; 2) How do various stakeholders perceive the benefits and risks of sociogenomic PGS?; and 3) How well do existing laws, policies, or governance protect against the potential harms of sociogenomic PGS while also promoting their potential benefits? Answering these questions requires both empirical research and legal analysis. Using horizon scanning methodologies, Aim 1 maps the landscape of sociogenomic PGS, their potential applications, and how sociogenomic research findings are presented to and consumed by the public. Aim 2 enlists those involved in the pipeline of sociogenomics research (biobank participants whose genetic data may be used to develop PGS, PGS researchers who develop the scores, and social scientists who may use the scores in their research studies) to examine and assess their attitudes toward the range of harms and benefits of sociogenomic PGS, and the implications of varying applications of PGS. Both of these efforts will inform Aim 3, which consists of a legal and policy analysis of how current legal rules protect against potential misuse and/or promote possible benefits of sociogenomic findings. The product of this project will be a set of case studies designed to help policy makers and researchers anticipate and mitigate the potential harms of employing sociogenomic PGS in various social settings while still identifying and maximizing potential benefits.