Developing Evidence-Based Guidance for Engaging Rural Residents in the Deep South in Genomics Research: A Stakeholder-Driven Perspective

摘要 基因组学研究群体的多样化是国家的优先事项，旨在加快 研究完善个体化预防、治疗、护理。混凝土，量身定做 需要制定战略，从道德上吸引各种代表性不足的人群参与，以促进 公平地获得基因组发现和翻译。美国的一个地区，在那里 南方农村地区的战略可能特别重要。美国农村居民 南方经历了持续的健康差距；对遗传学和 基因组科学；在基因组学研究中代表性不足；可能会受益 主要来自基因组学的科学进步。重要的是，结构上嵌入的 阻碍农村社区成员获得医疗保健进步的因素--以及 最终使健康不平等永久化--同样可能损害广泛的、知情的、 参与基因组学。然而，道德、法律和社会影响(ELSI) 与南方农村居民一起进行基因组研究还没有得到很好的理解。AS 因此，迫切需要让农村人口参与全基因组学研究 研究建立反映其独特价值的道德框架和指导方针， 首选项和优先级。建议的研究采用利益相关者参与的方法 考虑与生活体验相关的伦理、法律、社会和文化背景 向生活在南方农村的个人提供以证据为基础的指导方针，以促进有效 基因组学研究和发现的翻译。本研究由三个阶段组成，采用 包括当地在内的多个利益相关者参与的顺序定性研究设计 在整个研究过程中，社区成员、潜在研究参与者和内容专家 整合不同观点的过程。从社会、行为和生物 这项研究有可能成为指导其他科学领域基因组学研究的模式 医疗代表性不足的人群最终确定社区的最佳实践 基因组发现的翻译。

Abstract The diversification of genomics research cohorts is a national priority intended to accelerate research and improve individualized prevention, treatment and care. Concrete, tailored strategies are needed to ethically engage various underrepresented populations to promote equitable access to genomic discovery and translation. One region of the U.S. in which such strategies are likely to be of particular importance is the rural South. U.S. residents in the rural South experience persistent health disparities; have limited knowledge about genetics and genomic science; are underrepresented in genomics research; and would likely benefit substantially from scientific advances in genomics. Importantly, the structurally embedded factors that hinder members of rural communities from accessing advances in health care—and ultimately perpetuate health inequities—might similarly impair widespread, informed, participation in genomics. However, the ethical, legal, and social implications (ELSI) of conducting genomics research with residents in the rural South are not well-understood. As such, there is a critical need to engage rural populations in the full spectrum of genomics research to establish ethical frameworks and guidelines that reflect their unique values, preferences and priorities. The proposed study employs stakeholder-engagement methods with consideration to the ethical, legal, social and cultural contexts relevant to the lived experiences of individuals living in the rural South to inform evidence-based guidelines that facilitate effective translation of genomics research and discovery. This study consists of three phases, employing a sequential qualitative research design engaging multiple stakeholders, including local community members, potential study participants, and content experts throughout the research process to integrate diverse perspectives. Drawing from the social, behavioral, and biological sciences, this study has the potential to serve as a model to guide genomics research for other medically underrepresented populations to ultimately identify best practices for community translation of genomic discoveries.