癌症患者扩展面板分析的经济评价与NHS历史诊断生殖系遗传测试 - - 一个基于真实世界的数据建模研究
Qin Xi1, Rahul Patel2, Thomas Linton-Willoughby2
1Primary Care Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
European journal of medical genetics
|September 11, 2024
概括
对癌症易感基因 (CSG) 的现有下一代测序 (NGS) 数据进行重新分析是具有成本效益的. 与历史遗传检测方法相比,对8个基因小组进行全面扩展的测试具有显著的价值.
科学领域:
- 基因组医学是基因组医学.
- 卫生经济学 卫生经济学
- 在瘤学瘤学.
背景情况:
- 西南泰士河基因组学中心为符合条件的癌症患者使用了下一代测序 (NGS) 诊断基因组.
- 分析最初仅限于根据指南的特定变体 (BRCA1/BRCA2/PALB2/CHEK2 1100delC).
- 这项研究评估了重新分析现有的NGS数据以寻找额外的癌症易感基因 (CSG) 的成本效益.
研究的目的:
- 为了确定重新分析存储的诊断级NGS数据的成本效益.
- 评估将基因测试扩展到包括中等风险的CSG的价值.
- 评估对患者和一级亲属的影响.
主要方法:
- 重新分析了889名癌症患者的NGS数据,他们之前对常见的高风险变体进行了负面测试.
- 为两个场景建模成本效益:部分 (ATM) 和全 (ATM,BRIP1,CHEK2,RAD51C,RAD51D) 扩展测试.
- 将扩展测试策略与历史遗传测试方法进行比较.
主要成果:
- 部分扩展的测试产生了增量成本效益比 (ICER) 的英国£49,671 / QALY.
- 完全扩展的测试结果显著降低了英国£5716/QALY的ICER.
- 完全扩展的测试被证明是具有成本效益的,即使基因测试成本增加了30%.
结论:
- 对CSG进行现有诊断级NGS数据的重新分析是一个具有成本效益的策略.
- 将分析扩展到8基因小组提供了临床和经济上的好处.
- 与历史遗传检测相比,这种方法改善了患者和相对管理.
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