Risk-Benefit Trade-Offs for Whole Genome Sequencing

全基因组测序的风险与收益权衡

• 批准号: 8899726
• 负责人: KATHRYN A PHILLIPS
• 金额: $ 33.85万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-02-15 至 2016-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8899726
• 关键词: Address; Adopted; Benefits and Risks; Clinical; Clinical Trials; Complex; Confusion; Data; Decision Making; Development; Funding; Future; General Population; Genetic screening method; Genome; Guidelines; Health; Health Policy; Healthcare; Healthcare Systems; Hereditary Nonpolyposis Colorectal Neoplasms; Individual; Malignant Neoplasms; Measures; Methods; Modeling; National Human Genome Research Institute; Outcome; Participant; Patients; Physicians; Policy Analysis; Population; Provider; Public Health; Randomized Clinical Trials; Research; Research Personnel; Resources; Risk Assessment; Sampling; Science; Societies; Sum; System; Technology; Test Result; Theoretical model; Time; Translations; Work; clinical care; clinical practice; cost; cost effectiveness; decision research; disease diagnosis; economic value; experience; genome sequencing; health care delivery; improved; innovation; medical schools; new technology; preference; tumor

DESCRIPTION (provided by applicant): New technologies are enabling the arrival of the much awaited affordable genome the ability to sequence an individuals or a tumors entire genome quickly and inexpensively [whole genome sequencing (WGS)]. WGS is now being offered in clinical care and is expected to become more widely used in the near future, particularly in cancer. However, this technological advance threatens to outpace our ability to use it effectively in clinical practice and to address the associated health policy issues. Our objective is to evaluate the potential benefit- risk tradeoffs of WGS from the perspectives of patients, providers, the health care delivery system, and society by using systematic and quantitative approaches. Our study aims are: 1) to analyze how patients and physicians evaluate WGS benefit-risk tradeoffs using a decision-theoretic model of the value of information and 2) to empirically assess benefit-risk tradeoffs of WGS at the health care system and societal levels. For Aim 1 we will measure and compare patient and physician preferences for WGS in participants of the first randomized clinical trial of WGS using a general population sample (MedSeq Project), which is being led by Harvard Medical School and a nationally representative sample using quantitative, statistically rigorous methods (conjoint analysis). Aim 2 will be accomplished using two sub-aims. In Aim 2a we will conduct a policy analysis of how benefit-risk tradeoffs are considered in health care decision making for WGS, including coverage/reimbursement decisions and clinical guideline development, and how they compare to those of more established genetic tests. In Aim 2b we will develop (1) a framework to conceptualize, identify, and define data needed to assess the value of WGS; and (2) a prototypical cost-effectiveness model of one likely finding from WGS�identification of Lynch syndrome�using data from Aims 1 and 2a, MedSeq, and our previous analyses. This will be the first national study to our knowledge of patient and physician preferences relevant to WGS in the general population, to compare preferences from a clinical trial to a national population, and to systematically examine implications of WGS for the health care system and society. The proposed work is significant in that it will produce evidence of how WGS can be most effectively and efficiently adopted while also understanding its limitations�information that will be useful to patients, providers, researchers, and policymakers. Our work will have broad impact on and implications for clinical practice and health policy and will build on the research currently being conducted by our experienced and diverse team. In sum, this study will address a significant topic using innovative adaptation of methods. The study is being proposed at the right time in the development of WGS�a time when the study results will have an impact on the emerging science, when we can leverage the resources of an ongoing trial, and when we have the right team in place to conduct the research.

描述（由申请人提供）：新技术使人们期待已久的经济型基因组的到来成为可能，能够快速且廉价地对个体或整个肿瘤基因组进行测序[全基因组测序（WGS）现已在临床护理中提供]。预计在不久的将来将得到更广泛的应用，特别是在癌症领域。然而，这项技术进步可能会超过我们在临床实践中有效使用它并解决相关健康政策问题的能力。我们的目标是评估其潜力。效益-风险通过使用系统和定量的方法，从患者、提供者、医疗保健提供系统和社会的角度对 WGS 进行权衡。我们的研究目的是：1) 分析患者和医生如何使用决策理论来评估 WGS 的利益-风险权衡。信息价值模型；2) 实证评估 WGS 在医疗保健系统和社会层面的利益-风险权衡。 对于目标 1，我们将测量和比较第一个随机临床试验参与者中患者和医生对 WGS 的偏好。使用由哈佛医学院领导的一般人群样本（MedSeq 项目）和使用定量、情感严格的方法（联合分析）的全国代表性样本，我们将通过目标 2a 中的两个子目标来实现。将针对 WGS 医疗保健决策中如何考虑利益-风险权衡进行政策分析，包括承保/报销决策和临床指南制定，以及它们如何与更成熟的 In Aim 基因测试进行比较。 2b 我们将开发 (1) 一个框架，用于概念化、识别和定义评估 WGS 价值所需的数据；以及 (2) 使用目标 1 的数据，针对林奇综合征的 WGS 识别中的一项可能发现建立一个原型成本效益模型2a、MedSeq 以及我们之前的分析，这将是我们对普通人群中与 WGS 相关的患者和医生偏好的了解的第一项全国性研究，旨在比较临床试验与全国人群的偏好，并系统地检查。 WGS 对医疗保健系统和社会的影响意义重大，因为它将提供如何最有效和高效地采用 WGS 的证据，同时了解其局限性信息，这将有助于 我们的工作将对临床实践和卫生政策产生广泛的影响和影响，并将以目前正在进行的研究为基础。 总之，这项研究将利用创新的方法来解决一个重要的主题，该研究是在 WGS 发展的正确时机提出的，此时研究结果将对当我们能够利用正在进行的试验的资源，并且当我们拥有合适的团队来进行研究时，新兴科学就会出现。