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

将智力障碍成年人纳入精准医学研究 - Project ENGAGE

基本信息

批准号：
10666360
负责人：
Katherine Elizabeth McDonald
金额：
$ 65.21万
依托单位：
SYRACUSE UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-07-15 至 2027-06-30
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10666360
关键词：
Address Adult Clinical Cognitive Collaborations Communication Communities Consent Data Data Set Decision Making Disease Education Educational workshop Enrollment Ensure Equitable healthcare Equity Ethics Exclusion Family member Feedback Fostering Friends Funding Genetic Genomics Goals Health Health Professional Human Institutional Review Boards Intellectual functioning disability Intervention Knowledge Learning Legal Modeling Online Systems Peer Review Population Prevention Prevention strategy Privacy Protocols documentation Proxy Publications Research Research Personnel Research Project Grants Resources Review Literature Risk Role Scholarship Surveys Testing Text Time United States National Institutes of Health Work beneficiary cognitive interview community partnership consent capacity decision research design disability empowerment ethical, legal, and social implication experience field study health care model health disparity health empowerment health equity health equity promotion insight interest meetings member multimodality non-genetic novel personalized approach pilot test precision medicine preference recruit research study service providers social success theories tool treatment strategy usability webinar

项目摘要

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.

抽象的精准医学研究 (PMR) 具有通过挖掘遗传和非遗传来改变健康的潜力疾病机制以及成人的针对性预防和治疗。 PMR 中的智力障碍为解决其巨大的健康差异提供了新的机会。尽管如此，仍缺乏确定他们融入和参与 PMR 的独特需求。有证据表明大多数智力障碍成年人表现出同意能力，精准医学 (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，或者使用代理智力障碍成年人对 PMR 的同意提出了进一步的新颖性。关注的问题，包括同意的最佳模式以及如何管理遗传结果的返回，同时也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不幸的是，许多 PM 研究人员觉得自己没有能力做出回应；目前尚无法获得的教育和实践资源，这些差距导致成年人面临以下问题。智力障碍没有得到充分研究，并为产生知识以解决其健康问题造成障碍他们还阻碍了赋权，并且在道德上越来越受到质疑：有智力的成年人。拟议的研究采用学术界合作伙伴关系来实现。通过以下方式缩小这些差距：(1) 针对智力障碍成年人开展全国性、针对残疾情况的调查，以确定有关决策角色、结果交流、基因组隐私和需求的偏好参与 PMR；(2) 创建适用于 PMR 研究的同意工具包，以支持 PM 研究人员将患有智力障碍的成年人纳入 PMR 中，并通过文本复杂性研究对其进行实证测试，对智力障碍成年人进行认知访谈，以确保该人群的理解性；以及 (3) 与 PM 研究人员一起进行社会有效性研究，以评估工具包的可用性、相关性、可接受性、我们将免费发布基于网络的 PMR 工具包同意书。我们通过研讨会、网络研讨会、同行评审出版物和专业演讲得出的结论 PMR 激起了人们对一种新的、基于科学的、赋权的医疗模式的希望。惠及并惠及那些最脆弱和经历巨大健康差距的人。该项目有潜力通过帮助 PM 研究人员避免偏见的陷阱、坚持社区成员重视的人类机构原则，部署战略以进一步发展和多样化随着时间的推移，这项工作将有助于促进促进公平的 PMR 实践。医疗保健——NIH 的优先事项，这项研究首次涉及包括智力成年人在内的多个利益相关者。残疾将合作使用实证伦理调查来解决 PMR 和其他方面的同意和其他挑战将为包括智力障碍成年人在内的 PMR 提供重要的理论和实践见解。