Rational Integration of clinical SEquencing (RISE)

临床测序合理整合 (RISE)

基本信息

批准号：
9980443
负责人：
Jing Hao
金额：
$ 70.98万
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 2022-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9980443
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 advanced analytics 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.

崛起项目摘要临床基因组测序的出现，以识别有严重疾病风险的患者并量身定制治疗有望大大改善健康状况，并提供提供精密医学的基础。但是，即使作为实验室方法进行测序变得高效，最佳宽度周围的不确定性测序的经济价值以及个人应围绕的歧义接受测试给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，量化和优化经济和优化的新方法需要基因组限制的护理的临床价值。为了理性的整合测序（RISE）项目，我们建议将离散事件模拟（DES）开发为估算前瞻性获取的平均临床功效和成本效益序列数据的序列数据介绍了多样化的患者人群。模拟将利用基于文献的临床结果率，成本和公用事业的估计值结合临床外显子和药物基础实施计划数据，描述了如何结果将返回并在临床护理中做出反应。第一个目标将发展概念框架和计算基础架构，以了解基因组筛查中的经济价值。第二个目标将在外部验证上升使用现实世界使用数据模型。第三个目标将评估成本效益基因组筛选方案，确定价值的关键动力并为研究重点提供信息在基因组筛查中。

项目成果

期刊论文数量（7）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Comparison of Decision Modeling Approaches for Health Technology and Policy Evaluation.

DOI：
10.1177/0272989x21995805
发表时间：
2021-05
期刊：
MEDICAL DECISION MAKING
影响因子：
3.6
作者：
Graves, John;Garbett, Shawn;Zhou, Zilu;Schildcrout, Jonathan S.;Peterson, Josh
通讯作者：
Peterson, Josh

Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States.

DOI：
10.1016/j.gim.2022.01.017
发表时间：
2022-05
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
0
作者：
通讯作者：

Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States.

DOI：
10.1001/jamanetworkopen.2020.22874
发表时间：
2020-10-01
期刊：
JAMA network open
影响因子：
13.8
作者：
Guzauskas GF;Garbett S;Zhou Z;Spencer SJ;Smith HS;Hao J;Hassen D;Snyder SR;Graves JA;Peterson JF;Williams MS;Veenstra DL
通讯作者：
Veenstra DL

Population genomic screening: Ethical considerations to guide age at implementation.

DOI：
10.3389/fgene.2022.899648
发表时间：
2022
期刊：
Frontiers in genetics
影响因子：
3.7
作者：
Spencer SJ;Fullerton SM
通讯作者：
Fullerton SM

Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.

DOI：
10.1161/circgen.121.003549
发表时间：
2022-10
期刊：
CIRCULATION-GENOMIC AND PRECISION MEDICINE
影响因子：
7.4
作者：
Jones, Laney K.;Chen, Nan;Hassen, Dina A.;Betts, Megan N.;Klinger, Tracey;Hartzel, Dustin N.;Veenstra, David L.;Spencer, Scott J.;Snyder, Susan R.;Peterson, Josh F.;Schlieder, Victoria;Sturm, Amy C.;Gidding, Samuel S.;Williams, Marc S.;Hao, Jing
通讯作者：
Hao, Jing