Returning Individual Genetic Results to Participants in Cohort Studies

将个体遗传结果返回给队列研究的参与者

• 批准号: 8116582
• 负责人: Steven Joffe
• 金额: $ 41.38万
• 依托单位: DANA-FARBER CANCER INST
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-29 至 2013-07-08
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8116582
• 关键词: Address; Advocate; Age; Back; Belief; Bioinformatics; Cardiovascular system; Characteristics; Cohort Studies; Consensus; Data; Databases; Disclosure; Disease; Education; Ensure; Ethics; Face; Foundations; Framingham Heart Study; Genetic; Genetic Research; Genetic screening method; Genome; Genome Scan; Genomics; Genotype; Health; Heart; Hereditary Disease; Human; Individual; Influentials; Intervention; Knowledge; Large-Scale Sequencing; Mails; Mutation; Participant; Phase; Phenotype; Policies; Race; Rare Diseases; Relative Risks; Research; Research Personnel; Respondent; Risk; Severities; Shapes; Survey Methodology; Surveys; Technology; Test Result; Testing; Therapeutic; Time; abstracting; base; genome wide association study; improved; meetings; member; novel; preference; prevent; prophylactic; reproductive; response; sex; tool

SUMMARY/ABSTRACT Methodological advances now permit the use of genome-wide association studies (GWAS) to discover novel genotype-phenotype associations. GWAS offer a powerful tool for identifying genetic contributions to both common and rare diseases. At the same time, GWAS raise profound and challenging ethical questions. The most pressing questions derive from the likelihood that GWAS will uncover genetic information with the potential to be clinically meaningful to individual participants. As a result, investigators will inevitably face the question of whether individual genetic results from genome-wide scans should be disclosed to subjects. Commentators and ethics panels have addressed the question of whether genetic test results should be returned to research participants. Most policymakers advocate a cautious approach: disclosure should be limited to a narrow subset of results that meet stringent criteria related to magnitude of risk, severity of phenotype, and availability of prophylactic, therapeutic or reproductive interventions. Limited data regarding research participants' views, on the other hand, suggest a strong preference for disclosure of test results. However, because these data are based upon dichotomous responses to single questions, they do not address whether participants' views are sensitive to the factors identified by expert panels as salient to decisions about return of results. Without such information, it is impossible to know whether the gap between participants' views and policy guidance is as profound as the data suggest. The present proposal aims to bridge this gap through a factorial survey of 1800 members of the Jackson and Framingham Heart Studies, two influential cardiovascular cohort studies that conduct GWAS. Specifically, the proposed study will evaluate whether the criteria highlighted by policymakers are predictive of research participants' desires for this information. The study will also evaluate the relationships between attitudinal characteristics (e.g., views on and knowledge about genetics) and sociodemographic characteristics (e.g., age, education) and participants' desires for return of results. The findings will permit assessment of the extent to which there is concordance between the views of experts and those of research participants on this vexing topic. These data will help shape practice and policy regarding the return of individual results from genomic research.

摘要/摘要 方法学的进步现在允许使用全基因组关联研究（GWAS） 发现新的基因型-表型关联。 GWAS 提供了一个强大的工具来识别 遗传对常见疾病和罕见疾病的贡献。与此同时，GWAS 提出 深刻且具有挑战性的伦理问题。最紧迫的问题来自 GWAS 可能会发现具有临床应用潜力的遗传信息 对个体参与者有意义。如此一来，侦查人员就不可避免地面临这样的疑问： 是否应向受试者披露全基因组扫描的个体遗传结果。 评论员和伦理委员会已经讨论了基因测试是否有效的问题 结果应返回给研究参与者。大多数政策制定者主张谨慎 方法：披露应仅限于符合严格标准的一小部分结果 与风险程度、表型严重程度以及预防性、治疗性药物的可用性有关 或生殖干预。另一方面，有关研究参与者观点的数据有限 另一方面，表明强烈倾向于披露测试结果。然而，由于这些数据 基于对单一问题的二分回答，它们没有解决是否 参与者的观点对专家小组确定的对决策至关重要的因素很敏感 关于结果返回。如果没有这些信息，就不可能知道差距是否存在 正如数据显示的那样，参与者的观点和政策指导之间存在着深刻的差异。 本提案旨在通过对 1800 名会员进行的析因调查来弥补这一差距。 杰克逊和弗雷明汉心脏研究，两项有影响力的心血管队列研究 进行 GWAS。具体来说，拟议的研究将评估这些标准是否突出 政策制定者的预测可以预测研究参与者对这些信息的渴望。研究 还将评估态度特征之间的关系（例如，对和的看法） 遗传学知识）和社会人口特征（例如年龄、教育程度）以及 参与者对结果返回的愿望。研究结果将有助于评估其程度 专家和研究参与者的观点是一致的 这个令人烦恼的话题。这些数据将有助于制定有关回归的实践和政策 基因组研究的个体结果。