Including Adults with Intellectual Disability in Precision Medicine Research - Project ENGAGE

摘要 精确医学研究(PMR)具有通过发现遗传性和非遗传性来改变健康的潜力 疾病的机制和发展量身定做的预防和治疗。成年人参加，有 PMR中的智力残疾为解决他们巨大的健康差距提供了新的机会。然而，努力 没有确定他们在项目管理方案审查中纳入和参与的独特需要。尽管 证据表明大多数智力残疾的成年人表现出同意能力，精确医学(PM) 研究人员可能会将他们排除在外，在决策中无法满足他们的独特需求，或者使用代理 同意，但几乎没有什么有意义的同意。智障成年人对PMR的同意进一步提出了新的观点 关注的问题，包括同意的最佳模式以及如何管理基因结果的返回，同时还 确保基因组隐私并促进包容性和赋权--被认为是成功的关键 PMR。不幸的是，许多PM研究人员觉得自己没有能力做出回应；他们表达了对 目前没有的教育和实践资源。这些差距导致成年人患有 智力残疾研究不足，并为创造知识以解决他们的健康问题制造障碍 需要。他们还阻碍赋权，并在伦理上越来越有问题：成年人有智力 残疾希望包括在PMR中。拟议的研究采用了学术界和社区的合作伙伴关系 通过以下方式缩小这些差距：(1)对智障成年人进行一项针对残疾的全国性调查，以 确定有关决策角色、结果交流、基因组隐私和以下方面的需求的偏好 参与PMR；(2)创建PMR研究自适应同意工具包，以支持PM研究人员在 将智障成年人包括在PMR中，并通过文本复杂性研究和 与智障成年人进行认知访谈，以确保这些人群能够理解；以及(3) 与PM研究人员一起进行社会有效性研究，以评估该工具包的可用性、相关性、可接受性、 和全面性。对PMR工具包的网上同意将免费提供。我们将传播 我们通过研讨会、网络研讨会、同行评议出版物和在专业人士会议上的演示来发现 开会。PMR激起了人们对一种以科学为基础、赋予能力的新医疗模式的希望，这种模式 惠及并可以惠及那些最脆弱和健康差距很大的人。这 坚持认为，该项目有可能通过帮助PM研究人员避免偏见的陷阱来改变PMR 社区成员重视的人的代理原则，部署进一步增长和多样化的战略 现有PMR数据集。随着时间的推移，这项工作将有助于促进PMR中促进公平的做法 医疗保健-NIH的优先事项。这项研究是第一次有多个利益相关者，包括成年人和智力 残疾人将合作使用经验性伦理调查来解决PMR中的同意和其他挑战 将对包括智障成年人在内的PMR产生重要的理论和实践见解。

Abstract Precision medicine research (PMR) holds potential to transform health by unearthing genetic and non-genetic mechanisms of disease and developing tailored prevention and treatment. Participation of adults with intellectual disability in PMR offers new opportunities to address their substantial health disparities. Yet efforts to identify their unique needs for inclusion and engagement in PMR have been lacking. Despite evidence that most adults with intellectual disability demonstrate consent capacity, precision medicine (PM) researchers may exclude them, fail to accommodate their unique needs in decision-making, or use proxy consent with little meaningful assent. Consent of adults with intellectual disability to PMR further raises novel concerns, including best models for consent and how to manage the return of genetic results while also assuring genomic privacy and promoting inclusion and empowerment—believed to be critical for successful PMR. Unfortunately, many PM researchers feel ill-equipped to respond; they express desire for educational and practical resources that are not currently available. These gaps contribute to adults with intellectual disability being understudied and create barriers to generating knowledge to address their health needs. They also impede empowerment and are increasingly ethically questionable: adults with intellectual disability want to be included in PMR. The proposed study employs an academic-community partnership to close these gaps by: (1) conducting a national, disability-tailored survey with adults with intellectual disability to identify preferences regarding decision-making role, communication of results, genomic privacy, and needs for engagement in PMR; (2) Creating a PMR study-adaptable consent toolkit to support PM researchers in including adults with intellectual disability in PMR and empirically test it via a text complexity study and cognitive interviews with adults with intellectual disability to ensure understandability to this population; and (3) Conducting a social validity study with PM researchers to assess the toolkit’s usability, relevance, acceptability, and comprehensiveness. The web-based consent to PMR toolkit will be freely available. We will disseminate our findings through workshops, webinars, peer-reviewed publications, and presentations at professional meetings. PMR has stirred hopes for a new, scientifically-based, and empowering healthcare model that reaches, and can benefit, those who are most vulnerable and experience substantial health disparities. This project has the potential to transform PMR by helping PM researchers avoid the pitfalls of bias, uphold principles of human agency valued by community members, deploy strategies to further grow and diversify existing PMR datasets. This work will, over time, help foster practices in PMR that promote equitable healthcare—NIH priorities. This research is the first-time multiple stakeholders including adults with intellectual disability will collaborate to use empirical ethics inquiry to address consent and other challenges in PMR and will yield critical theoretical and practical insights to PMR inclusive of adults with intellectual disability.