Cost Effectiveness of Germline Genetic Testing in Pancreatic Cancer

胰腺癌种系基因检测的成本效益

• 批准号: 10335268
• 负责人: Mary Linton B Peters
• 金额: $ 25.27万
• 依托单位: BETH ISRAEL DEACONESS MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-03-01 至 2025-02-28
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10335268
• 关键词: Address; American Society of Clinical Oncology; Award; BRCA2 Mutation; Cancer Model; Cessation of life; Clinical; Clinical Trials; Communication; Cost Analysis; Cost Effectiveness Analysis; DNA Sequence Alteration; Data; Decision Analysis; Detection; Development; Development Plans; Diagnosis; Disease model; Distress; Effectiveness; Evaluation; Family member; First Degree Relative; Funding; Genes; Germ-Line Mutation; Goals; Image; Individual; Knowledge; Lesion; Life Expectancy; Literature; Magnetic Resonance Imaging; Malignant Neoplasms; Malignant neoplasm of pancreas; Mentorship; Methodology; Modeling; Mutation; National Comprehensive Cancer Network; Natural History; Notification; Outcome; Outcomes Research; Pancreatic Ductal Adenocarcinoma; Patient-Focused Outcomes; Patients; Pilot Projects; Positioning Attribute; Probability; Publishing; Research; Research Personnel; Resources; Risk; Role; SEER Program; Scientist; Secure; Selection for Treatments; Solid; Structure; Surveys; Test Result; Testing; Work; anticancer research; base; cancer genetics; cancer risk; career; career development; chemotherapy; cost effective; cost effectiveness; cost estimate; design; effectiveness analysis; experience; family genetics; genetic approach; genetic panel test; genetic testing; innovation; insight; knowledge base; mathematical model; models and simulation; mutation carrier; oxaliplatin; pancreatic ductal adenocarcinoma model; programs; risk minimization; risk variant; screening; teacher

Project Summary Recent evidence suggests that up to 10% of patients with Pancreatic Ductal AdenoCarcinoma (PDAC) harbor a germline genetic mutation in a cancer risk gene. For this reason, the National Comprehensive Cancer Network (NCCN) and American Society of Clinical Oncology (ASCO) recommend germline genetic testing for all patients with PDAC. However, the best ways to perform this testing and use the resulting information remain unclear. As genetic testing becomes more common, critical questions need to be addressed: the number of genes to test; whether testing causes patient distress; and the benefit of PDAC screening in healthy mutation carriers. Answering these questions will maximize the benefit of genetic testing while minimizing the risks of over-testing, over-screening, and inefficient use of resources. My goal is to reduce the burden of pancreatic cancer by identifying optimal ways to execute germline genetic testing in patients with PDAC and act on the information gained. To accomplish this goal, I will develop a mathematical model that simulates patient genetic testing and resulting treatment selection, as well as family member notification, genetic testing, and PDAC screening (Aim 1). I will conduct patient surveys to expand our understanding of patient distress associated with genetic testing and communication of results to family members (Aim 2.1). I will use the model and insights gained to determine the timing and breadth of genetic testing that will optimize life expectancy for patients and family members (Aim 2.2). Finally, I will conduct a cost-effectiveness analysis of germline genetic testing in PDAC that takes into account diagnosis, treatment, and family genetic testing in an innovative structure (Aim 3). This will allow me to identify effective and high- value genetic testing strategies for patients with PDAC, including benefits to patients and their family members. Completion of this project will be a critical step towards my goal of becoming an independent clinician-scientist focused in disease modeling, genetic testing, and cancer outcomes research. In addition to my ongoing role as a clinician and teacher, I will undertake an educational program that has been specifically designed to support this project and my career goals. I have assembled a mentorship team with unique strengths in cancer modeling, cancer genetics, and pancreatic cancer research, all of whom are strong, independent investigators who can guide my career development. This award will provide critical support to allow me to broaden my knowledge base, leverage the expertise of a senior mentorship team, secure independent R01 funding, and support my transition to independence in the years to come.

项目摘要 最近的证据表明，高达10%的胰腺导管腺癌（PDAC）患者患有 癌症风险基因中的生殖系基因突变。因此，国家癌症综合研究所 网络（NCCN）和美国临床肿瘤学会（ASCO）建议生殖系基因检测， 所有PDAC患者。然而，执行此测试并使用结果信息的最佳方法 仍然不清楚。随着基因检测变得越来越普遍，需要解决的关键问题是： 测试的基因数量;测试是否会导致患者痛苦;以及PDAC筛查在健康人群中的益处 变异携带者回答这些问题将最大限度地发挥基因检测的好处，同时最大限度地减少 过度测试、过度筛查和资源利用效率低下的风险。 我的目标是通过确定最佳的方法来执行生殖细胞遗传学， 在PDAC患者中进行测试，并根据获得的信息采取行动。为了实现这一目标，我将开发一个 模拟患者基因检测和由此产生的治疗选择以及家庭的数学模型 成员通知、基因检测和PDAC筛查（目标1）。我将进行病人调查， 了解与基因检测相关的患者痛苦，并将结果传达给家人 成员（目标2.1）。我将使用获得的模型和见解来确定遗传学的时间和广度。 优化患者和家属预期寿命的检测（目标2.2）。最后，我将进行一次 生殖系基因检测在PDAC中的成本效益分析，考虑到诊断，治疗， 在创新结构中进行家庭基因检测（目标3）。这将使我能够识别有效和高- 重视PDAC患者的基因检测策略，包括对患者及其家庭成员的益处。 这个项目的完成将是我成为一名独立的临床科学家的目标的关键一步 专注于疾病建模，基因检测和癌症结果研究。除了我目前的角色 作为一名临床医生和教师，我将开展一项专门设计的教育计划， 支持这个项目和我的职业目标。我组建了一个在癌症治疗方面有独特优势的导师团队 建模，癌症遗传学和胰腺癌研究，所有这些都是强大的，独立的研究人员 能指导我职业发展的人这个奖项将提供关键的支持，让我扩大我的 知识基础，利用高级指导团队的专业知识，获得独立的R 01资金，以及 支持我在未来几年向独立过渡。