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Rational Integration of clinical SEquencing (RISE)

临床测序合理整合 (RISE)

基本信息

批准号：
9768511
负责人：
Jing Hao
金额：
$ 71.01万
依托单位：
VANDERBILT UNIVERSITY MEDICAL CENTER
依托单位国家：
美国
项目类别：
财政年份：
2017
资助国家：
美国
起止时间：
2017-09-05 至 2021-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9768511
关键词：
Address Adopted Adoption Adult Area Behavior Caring Categories Clinical Clinical assessments Collection Community Health Computerized Medical Record Consent Cost Analysis Cost utility Costs and Benefits Data Decision Making Decision Modeling Disease Economics Environment Event Foundations Funding Generations Genes Genetic Genetic Diseases Genetic Risk Genome Genomics Goals Health Health Technology Health system Healthcare Healthcare Systems Incidental Findings Individual Investments Laboratories Literature Methods Modeling National Human Genome Research Institute Outcome Patients Pharmacogenomics Pharmacotherapy Policies Population Population Heterogeneity Preventive care Program Evaluation Provider Research Research Personnel Research Priority Resources Risk Sampling System Techniques Technology Testing Uncertainty United States National Institutes of Health Ursidae Family Work base clinical care clinical efficacy clinical practice clinical sequencing computer infrastructure cost effective cost effectiveness economic outcome economic value exome exome sequencing genetic disorder diagnosis genome sequencing health economics improved individualized medicine models and simulation next generation sequencing novel novel strategies patient population payment precision medicine programs prospective screening simulation tool

项目摘要

RISE Project Summary The advent of clinical genome sequencing to identify patients at risk for serious diseases and to tailor treatments promises to greatly improve health outcomes and provide a foundation for the delivery of Precision Medicine. However, even as laboratory methods to perform sequencing become highly efficient, uncertainty around the optimal breadth and economic value of sequencing as well as ambiguity around which individuals should be tested presents a critical barrier to wider use. As we rapidly approach an era of inexpensive sequencing, new approaches to quantify and optimize the economic and clinical value of genome-tailored care are needed. For the Rational Integration of Sequencing (RISE) project, we propose to develop a Discrete Event Simulation (DES) to estimate the average clinical efficacy and cost-effectiveness of prospectively acquiring sequence data across a diverse patient population. The simulation will leverage literature-based estimates of clinical outcome rates, costs, and utilities combined with clinical exome and pharmocogenomic implementation program data describing how results are returned and reacted to within clinical care. The first Aim will develop a conceptual framework and computational infrastructure to understand the drivers of economic value in genomic screening. The second Aim will externally validate the RISE model using real-world use data. The third Aim will assess the cost effectiveness of genomic screening scenarios, identify key drivers of value and inform research priorities in genomic screening.

RISE项目总结临床基因组测序的出现可识别患有严重疾病风险的患者定制治疗方法有望大大改善健康结果并提供为精准医学的实施奠定了基础。然而，即使作为实验室方法使测序变得高效，最佳宽度具有不确定性测序的经济价值以及个人应该围绕哪些方面的模糊性进行测试是更广泛使用的关键障碍。当我们迅速接近一个时代廉价的测序、量化和优化经济的新方法需要基因组定制护理的临床价值。为了合理整合测序（RISE）项目，我们建议开发离散事件模拟（DES）估计前瞻性收购的平均临床疗效和成本效益对不同患者群体的数据进行测序。模拟将利用基于文献的临床结果率、成本和效用的估计结合临床外显子组和药物基因组实施计划数据描述了如何结果被返回并在临床护理中做出反应。第一个目标将开发概念框架和计算基础设施，以了解驱动因素基因组筛选的经济价值。第二个目标将从外部验证 RISE 使用真实世界使用数据的模型。第三个目标将评估成本效益基因组筛查方案，确定价值的关键驱动因素并告知研究重点在基因组筛选中。