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

临床护理中的基因组风险促进纽约市患者的健康公平

• 批准号: 10657565
• 负责人: NOURA SERENE ABUL-HUSN
• 金额: $ 168.74万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-07-01 至 2025-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10657565
• 关键词: Address; Adult; Artificial Intelligence; Attitude; Benchmarking; Calibration; Caring; Clinic; Clinical; Clinical Data; Clinical Trials; Collaborations; Communication; Communities; Complex; Computer software; Data; Databases; Development; Disease; Ethnic Population; European ancestry; Family; Genetic; Genomic approach; Genomic medicine; Genomics; Health; Health system; Healthcare Systems; Individual; Industry; Inequity; Institution; Intervention; Investments; Knowledge; Learning; Life; Link; Methods; Mission; Multilingualism; National Human Genome Research Institute; New York City; Outcome; Participant; Patient Care; Patient Education; Patient Self-Report; Patients; Perception; Phase; Physicians; Population; Population Genetics; Population Heterogeneity; Predictive Value; Qualitative Research; Recommendation; Recording of previous events; Reporting; Research; Research Personnel; Risk; Risk Assessment; Risk Reduction; Role; Science; Scientist; Social outcome; Speed; Technology; Testing; Trust; Underserved Population; Urban Health; Work; behavioral outcome; biobank; clinical care; clinical decision-making; clinical research site; clinical risk; cohort; community engagement; data resource; design; digital health; digital platform; digital technology; disorder risk; ethnic diversity; experience; flexibility; health application; health disparity; health equity; health equity promotion; health literacy; high risk; implementation barriers; improved; industry partner; innovation; interdisciplinary collaboration; mathematical ability; medically underserved; member; multi-ethnic; patient engagement; patient population; pediatric patients; polygenic risk score; preference; primary care practice; psychological outcomes; psychosocial; racial population; recruit; risk prediction; risk stratification; tool; uptake

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.

项目概要 建立在我们在基因组研究、临床试验和基因组医学领域的良好记录的基础上，这些领域服务水平较低 对于来自纽约市的患者，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 (PRS) 正在进入一个令人兴奋的阶段，有望提高 通过加强风险分层和临床决策，改善多种复杂疾病的健康结果。 然而，当今临床 PRS 实施仍面临重大挑战。绝大多数 PRS 已经 欧洲血统的个体比其他血统的个体具有更大的预测价值，以及获取资源的问题 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花了十年的时间 在构建适合多样化和混合人群的方法方面的经验，将共同努力严格 发展多种族 PRS。我们将把多种族 PRS 与标准临床风险和家族史相结合 信息来生成 15 种常见疾病的基因组风险评估。借鉴西奈山的世纪 凭借为世界上最多样化的患者群体之一提供服务的经验，我们将招募 2,500 名成人和 来自不同和服务不足人群的儿科患者参与临床试验。我们将估计参与者的 每种情况的个体化风险，并调查基因组风险沟通对患者和患者的影响 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采用。我们 将探讨不同领域中与基因组风险评估相关的态度、障碍和沟通偏好 人口。获得的知识将用于指导开发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。我们将追踪患者 通过该平台参与他们的结果，并评估个体化基因组风险的影响 对患者报告的心理社会结果和经历的评估。从今天起，有效的途径 将基因组风险纳入繁忙的卫生系统的临床护理中，特别是对于不同的患者来说，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 评估、沟通和降低疾病风险的一系列策略，以最大限度地提高效率 基因组医学交付，促进健康公平。