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

超越医学：社会特征多基因评分的 ELSI

• 批准号: 10433231
• 负责人: Rosemary Jean Cadigan
• 金额: $ 71.15万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-06-13 至 2026-03-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10433231
• 关键词: Address; Attitude; Awareness; Behavior; Behavioral; Benefits and Risks; Biological; Case Study; Complex; Consent; Consumption; Data; Databases; Development; Diabetes Mellitus; Discrimination; Disease; Empirical Research; Environment; Environmental Risk Factor; Ethics; Eugenics; Genes; Genetic; Genomics; Goals; Health; Heart Diseases; Huntington Disease; Income; Individual; Insurance Carriers; Interview; Laws; Lead; Legal; Life; Maps; Measures; Medical; Methodology; Modeling; Outcome; Paper; Participant; Perception; Policies; Policy Analysis; Policy Maker; Polygenic Traits; Population; Predictive Value; Process; Public Health; Publications; Published Comment; Regulation; Reproductive Behavior; Research; Research Design; Research Personnel; Resources; Risk; Risk Behaviors; Role; Scanning; Scientist; Sexuality; Social Impacts; Social Justice; Social Policies; Social Sciences; Social outcome; Source; Students; Sum; Surveys; Technology; Testing; Universities; behavioral outcome; biobank; ethical legal social implication; genetic predictors; genetic technology; genetic testing; genetic variant; high risk; implementation barriers; improved; legal cases; new technology; news; optimism; personalized medicine; polygenic risk score; research study; social; social disparities; social genomics; social inequality; social interventions; social science research; stakeholder perspectives; symposium; trait; trend

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.

7.项目总结/摘要 在传统的预测性基因检测中，分析单个基因变异以确定个体是否是 有很高的患病风险然而，绝大多数疾病都是多基因的， 不同的基因多基因风险评分（PRS）已经预示着他们的承诺，以预测风险，这些更多 复杂的疾病，如心脏病或糖尿病，通过测量数百或数千个 遗传变异的同时然而，除了预测健康或医疗结果之外，“社会基因组学”的领域是 开发多基因评分（PGS），测量遗传对社会特征和行为因素的贡献， 收入、教育程度、性取向和乐观。社会基因组学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。 在社会科学研究中考虑遗传因素，并创造个性化的社会干预措施。 类似于个性化医疗。但也有人担心社会基因组学的PGS发现可能会导致歧视 以及现有社会差距的加剧。为了理解道德的、法律的和社会的 社会基因组学PGS研究及其成果的影响，本项目涉及以下研究 问题：1）目前社会基因组学PGS的发展趋势是什么，可能的发展方向是什么？ 分数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？3）现有的法律、政策或治理如何有效地防范潜在的 社会基因组学PGS的危害，同时也促进其潜在的好处？回答这些问题需要 既有实证研究，也有法律的分析。Aim 1使用地平线扫描方法绘制景观地图 社会基因组学PGS，它们的潜在应用，以及社会基因组学研究结果如何呈现给 并被大众消费。目标2招募了那些参与社会基因组学研究的人（生物库 其遗传数据可用于开发PGS的参与者，开发评分的PGS研究人员，以及 社会科学家可能会在他们的研究中使用分数）来检查和评估他们对 社会基因组学PGS的一系列危害和益处，以及PGS不同应用的影响。 这两项努力将为目标3提供信息，目标3包括对现行法律的规则如何影响国家的法律的和政策分析。 防止潜在的滥用和/或促进社会基因组学发现的可能益处。的产物 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减轻 在各种社会环境中使用社会基因组学PGS的潜在危害， 最大化潜在利益。