Chapter 11: Challenges in and Principles for Conducting Systematic Reviews of Genetic Tests used as Predictive Indicators
Chapter 11: Challenges in and Principles for Conducting Systematic Reviews of Genetic Tests used as Predictive Indicators
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DOI：
10.1007/s11606-011-1898-z
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发表时间：
2012-06-01
影响因子：
5.7
通讯作者：
Matchar, David B.
中科院分区：
文献类型：
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作者：
Jonas, Daniel E.;Wilt, Timothy J.;Matchar, David B.
在这篇文章中，我们讨论了对基因测试进行系统审查的共同挑战和原则。所讨论的基因测试类型是用于1)的。确定无症状个体的风险或易感性；2)。揭示预后信息以指导病情患者的临床治疗；或3)。预测对治疗或环境因素的反应。这篇论文并不是要为评估所有的基因测试提供全面的指导。相反，它侧重于分析员和利益攸关方特别关注的问题，以及与评估基因测试研究特别相关的领域。要点包括：评估基因测试的一般原则与其他预测性或预测性测试的一般原则相似，但在如何应用这些原则或某些问题的相关程度上存在差异。在评估任何测试时，包括基因测试在内，明确定义临床场景和分析框架是重要的。组织框架和分析框架是探讨基因测试评估的有用结构。在构建评估基因测试的分析框架时，分析师应考虑分析前、分析和分析后的因素；这些因素在评估分析有效性时很有用。预测性基因测试的特点通常是测试和临床重要事件之间的时间延迟。要找到一些基因测试分析有效性的公开信息可能很困难。网站(FDA或诊断公司)和灰色文献可能是重要的来源。在与风险相关的临床因素被很好地表征的情况下，比较有效性审查应该评估与仅使用已知因素相比使用基因检测和已知因素的附加值。对于全基因组关联研究，评价者应该确定这种关联是否已经在多项研究中得到验证，以最大限度地减少潜在的混淆和发表偏倚。此外，审查员应注意是否对多次比较使用了适当的调整。
In this paper, we discuss common challenges in and principles for conducting systematic reviews of genetic tests. The types of genetic tests discussed are those used to 1). determine risk or susceptibility in asymptomatic individuals; 2). reveal prognostic information to guide clinical management in those with a condition; or 3). predict response to treatments or environmental factors. This paper is not intended to provide comprehensive guidance on evaluating all genetic tests. Rather, it focuses on issues that have been of particular concern to analysts and stakeholders and on areas that are of particular relevance for the evaluation of studies of genetic tests. The key points include:The general principles that apply in evaluating genetic tests are similar to those for other prognostic or predictive tests, but there are differences in how the principles need to be applied or the degree to which certain issues are relevant.A clear definition of the clinical scenario and an analytic framework is important when evaluating any test, including genetic tests.Organizing frameworks and analytic frameworks are useful constructs for approaching the evaluation of genetic tests.In constructing an analytic framework for evaluating a genetic test, analysts should consider preanalytic, analytic, and postanalytic factors; such factors are useful when assessing analytic validity.Predictive genetic tests are generally characterized by a delayed time between testing and clinically important events.Finding published information on the analytic validity of some genetic tests may be difficult. Web sites (FDA or diagnostic companies) and gray literature may be important sources.In situations where clinical factors associated with risk are well characterized, comparative effectiveness reviews should assess the added value of using genetic testing along with known factors compared with using the known factors alone.For genome-wide association studies, reviewers should determine whether the association has been validated in multiple studies to minimize both potential confounding and publication bias. In addition, reviewers should note whether appropriate adjustments for multiple comparisons were used.