Rational Integration of clinical SEquencing (RISE)

RISE项目概要 临床基因组测序的出现，以确定有严重疾病风险的患者 量身定制的治疗方法有望大大改善健康状况， 精准医疗的基础。然而，即使实验室方法 执行排序变得高效，围绕最佳宽度的不确定性 和经济价值的排序，以及模糊周围的人应该 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，新的方法来量化和优化经济和 需要基因组定制护理的临床价值。为了合理整合 排序（RISE）项目，我们建议开发一个离散事件仿真（DES）， 估计前瞻性获取的平均临床疗效和成本效益 不同患者群体的序列数据。模拟将利用 基于文献的临床结局率、成本和效用估计， 临床外显子组和药物基因组实施程序数据，描述了如何 结果被返回并在临床护理中作出反应。第一个目标将开发一个 概念框架和计算基础设施，以了解 基因组筛选的经济价值。第二个Aim将从外部验证RISE 使用真实世界的使用数据建模。第三个目标将评估以下方面的成本效益： 基因组筛选方案，确定价值的关键驱动因素，并告知研究优先事项 基因组筛选

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.