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: 8619652
• 负责人: KATHRYN A PHILLIPS
• 金额: $ 57.21万
• 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 2017-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8619652
• 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 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; public health relevance; 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(申请人提供)：新技术正在使人们期待已久的负担得起的基因组的到来，能够快速和廉价地对个体或肿瘤的整个基因组进行测序[全基因组测序(WGS)]。WGS现在正被提供给临床护理，并有望在不久的将来得到更广泛的使用，特别是在癌症方面。然而，这一技术进步的速度可能会超过我们在临床实践中有效使用它并解决相关卫生政策问题的能力。我们的目标是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评估WGS的潜在利益-风险权衡。我们的研究目的是：1)使用信息价值的决策理论模型分析患者和医生如何评估WGS的收益-风险权衡；2)在医疗保健系统和社会层面对WGS的利益-风险权衡进行经验性评估。对于目标1，我们将使用哈佛医学院领导的普通人群样本(MedSeq项目)和使用定量的、统计上严格的方法(联合分析)的全国代表性样本来测量和比较WGS的第一个随机临床试验的参与者中患者和医生对WGS的偏好。目标2将通过两个分目标来实现。在目标2a中，我们将进行一项政策分析，分析在为WGS制定医疗保健决策时如何考虑利益与风险的权衡，包括承保/报销决定和临床指南的制定，以及它们与更成熟的基因测试的比较。在目标2b中，我们将开发(1)一个框架，以概念化、确定和定义评估WGS价值所需的数据；以及(2)使用来自目标1和2a、MedSeq的数据以及我们之前的分析，建立WGS可能发现的一个可能的成本-效果模型。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进行的第一次全国性研究，比较临床试验和全国人群的偏好，并系统地研究WGS对卫生保健系统和社会的影响。拟议的工作具有重要意义，因为它将提供证据，说明如何最有效和高效地采用WGS，同时也了解其局限性，这些信息将有助于 患者、提供者、研究人员和政策制定者。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 由我们经验丰富和多样化的团队进行。总而言之，这项研究将使用创新的方法适应一个重要的主题。这项研究是在WGS发展的正确时间提出的，当研究结果将对新兴科学产生影响的时候，当我们可以利用正在进行的试验的资源时，当我们有合适的团队进行研究的时候。