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

项目总结 以我们在基因组研究、临床试验和基因组医学方面的记录为基础，提供的服务不足 来自纽约市的患者，我们建议开发新的框架，将基因组风险引入临床护理，以促进 健康公平。多基因风险评分(PR)正进入一个令人兴奋的阶段，他们准备提高 通过改进的风险分层和临床决策，为无数复杂疾病的健康结果。 然而，目前在临床实施PRS方面存在重大挑战。绝大多数的PR都有很远的 与其他祖先相比，欧洲血统的个人具有更大的预测价值，以及获得 尖端的基因组技术、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，西奈山的统计遗传学和人口遗传学专家，用了十年的时间 在为不同和混杂的人群量身定做方法方面的经验，将共同努力，严格 发展多民族合作共建共享。我们将把多种族的PR与标准的临床风险和家族史结合起来 为15种常见疾病生成基因组风险评估的信息。描绘西奈山的世纪 服务于世界上最多样化的患者群体之一的经验，我们将招募2,500名成年人和 来自不同和服务不足人群的儿科患者进入临床试验。我们将估计参与者的 针对每种情况个体化风险，并调查基因组风险沟通对患者和 他们的医生，包括患者对建议的降低风险干预措施的理解和接受。我们 将探讨与基因组风险评估相关的态度、障碍和沟通偏好 人口。所获得的知识将用于指导开发一种新的面向患者的多语言 支持患者教育和基因组风险交流的数字平台。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历进行评估。到今天为止，有效地实现 在繁忙的卫生系统中将基因组风险整合到临床护理中，特别是对不同的患者来说，目前还不清楚。 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 评估、沟通和降低疾病风险的一系列战略，以最大限度地提高 基因药物投放，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.