Genomic risk in clinic care to promote health equity in New York City patients

项目摘要 我们在基因组研究、临床试验和基因组医学方面的记录， 我们建议开发新的框架，将基因组风险纳入临床护理，以促进 健康公平。多基因风险评分（PRS）正在进入一个令人兴奋的阶段，他们准备提高 通过加强风险分层和临床决策，为无数复杂疾病提供健康结果。 然而，当今临床PRS实施存在重大挑战。绝大多数的社会责任者 欧洲血统的个体比其他血统的个体具有更大的预测价值， 领先的基因组技术、研究和测试对服务不足的人群产生了不成比例的影响。 为了解决这个问题，西奈山统计遗传学和群体遗传学专家， 在为不同和混合人群量身定制的建筑方法方面的经验，将共同努力， 制定多民族减贫战略。我们将整合多种族PRS与标准临床风险和家族史 这些信息将用于对15种常见疾病进行基因组风险评估。借鉴西奈山的世纪 我们将招募2,500名成年人， 来自不同和服务不足人群的儿科患者进入临床试验。我们将评估参与者的 每种疾病的个体化风险，并调查基因组风险沟通对患者的影响， 他们的医生，包括病人的理解和建议的风险降低干预措施的吸收。我们 将探讨态度，障碍和沟通偏好相关的基因组风险评估在不同的 人口数量。所获得的知识将用于指导新的多语言面向患者的 支持患者教育和基因组风险沟通的数字平台。我们将跟踪患者 通过平台参与他们的结果，并评估个性化基因组风险的影响 对患者报告的心理社会结果和经验进行评估。到今天为止， 在忙碌卫生系统中，将基因组风险纳入临床护理，特别是针对不同患者，目前尚不清楚。 因此，我们正在与临床医生、科学家、行业专家和社区利益相关者合作，探索一种 一系列评估、沟通和减少疾病风险的战略，以最大限度地提高 基因组药物交付，促进健康公平。

PROJECT SUMMARY Building on our track record in genomic research, clinical trials, and genomic medicine in diverse, underserved patients from NYC, we propose to develop new frameworks to bring genomic risk into clinical care to promote health equity. Polygenic risk scores (PRS) are entering an exciting phase where they are poised to improve health outcomes for myriad complex diseases through enhanced risk stratification and clinical decision making. However, major challenges exist for clinical PRS implementation today. The vast majority of PRS have far greater predictive value in individuals of European ancestry than other ancestries, and issues of access to leading-edge genomic technology, research, and testing disproportionately impact underserved populations. To address this, Mount Sinai experts in statistical genetics and population genetics, with decade-long experience in building methods tailored to diverse and admixed populations, will work together to rigorously develop multi-ethnic PRS. We will integrate multi-ethnic PRS with standard clinical risk and family history information to generate genomic risk assessments for 15 common diseases. Drawing on Mount Sinai's century of experience serving one of the most diverse patient populations in the world, we will recruit 2,500 adult and pediatric patients from diverse and underserved populations into a clinical trial. We will estimate participants' individualized risk for each condition, and investigate the impact of genomic risk communication to patients and their physicians, including patient understanding and uptake of recommended risk-reducing interventions. We will explore attitudes, barriers, and communication preferences related to genomic risk assessment in diverse populations. Knowledge gained will be used to guide the development of a new multilingual patient-facing digital platform supporting patient education and communication of genomic risk. We will track patient engagement with their results through the platform, and assess the impact of individualized genomic risk assessments on patient-reported psychosocial outcomes and experiences. As of today, the path to effectively integrate genomic risk into clinical care in busy health systems, particularly for diverse patients, is unclear. Hence, we are partnering with clinicians, scientists, industry experts, and community stakeholders to explore a range of strategies to assess, communicate, and reduce disease risk, in order to maximize the efficiency of genomic medicine delivery, and promote health equity.