我们是否正确评估遗传和基因组测试? 卫生技术评估报告的系统审查报告
Antonio Sciurti1, Giuseppe Migliara2, Valentina Baccolini3,4
1Department of Public Health and Infectious Diseases, Sapienza University of Rome, Piazzale Aldo Moro 5, Rome, 00185, Italy.
Journal of translational medicine
|July 7, 2025
概括
基因和基因组技术的卫生技术评估 (HTA) 显示了分散的方法和显著的证据差距,特别是在临床准确性,安全性和社会影响方面. 为了有效实施,需要标准化框架.
科学领域:
- 基因组学就是基因组学.
- 精准医学是一门精准的医学.
- 卫生技术评估 卫生技术评估
背景情况:
- 将遗传和基因组技术转化为实践受到有限的证据和非标准化的评估的挑战.
- 卫生技术评估 (HTA) 是至关重要的,但在方法和范围上有所不同.
- 这次审查对基因/基因组应用的HTA报告进行了映射和分析,以确定差距.
研究的目的:
- 系统地审查和分析基因和基因组技术的评估报告.
- 为这些应用程序绘制HTA报告的地图.
- 确定当前评估中的方法方面和证据缺口.
主要方法:
- 在多个数据库 (PubMed,Scopus,Web of Science,HTA数据库) 搜索评估报告.
- 提取了关于报告特征,评估领域,证据来源和确定缺口的数据.
- 综合发现以叙述的方式.
主要成果:
- 包括41份报告,主要来自加拿大,英国和澳大利亚,重点关注癌症基因测试.
- 大多数报告使用了具有不同评估领域的通用HTA方法.
- 在临床准确性 (39.0%) 和安全性 (22.0%) 中发现了显著的证据差距,个人/社会方面的调查最少 (48.8-78.0%).
结论:
- 目前用于遗传/基因组应用的HTA方法是分散的.
- 分析/临床准确性,安全性和非健康结果普遍被低估.
- 迫切需要标准化,全面的评估框架和替代研究设计,以支持技术实施.
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