Gene expression profiles with prognostic capacities have shown good performance in multiple clinical trials. However, with multiple assays available and numerous types of validation studies performed, the added value for daily clinical practice is still unclear. In Europe, the MammaPrint, OncotypeDX, PAM50/Prosigna and Endopredict assays are commercially available. In this systematic review, we aim to assess these assays on four important criteria: Assay development and methodology, clinical validation, clinical utility and economic value.

We performed a literature search covering PubMed, Embase, Web of Science and Cochrane, for studies related to one or more of the four selected assays.

We identified 147 papers for inclusion in this review. MammaPrint and OncotypeDX both have evidence available, including level IA clinical trial results for both assays. Both assays provide prognostic information. Predictive value has only been shown for OncotypeDX. In the clinical utility studies, a higher reduction in chemotherapy was achieved by OncotypeDX, although the number of available studies differ considerably between tests. On average, economic evaluations estimate that genomic testing results in a moderate increase in total costs, but that these costs are acceptable in relation to the expected improved patient outcome. PAM50/prosigna and EndoPredict showed comparable prognostic capacities, but with less economical and clinical utility studies. Furthermore, for these assays no level IA trial data are available yet.

In summary, all assays have shown excellent prognostic capacities. The differences in the quantity and quality of evidence are discussed. Future studies shall focus on the selection of appropriate subgroups for testing and long-term outcome of validation trials, in order to determine the place of these assays in daily clinical practice.

具有预后能力的基因表达谱已在多项临床试验中显示出良好的性能。但是，由于有多种检测方法和多种类型的验证研究，对于日常临床实践的附加价值仍不清楚。在欧洲，MammaPrint，OncotypeDX，PAM50 / Prosigna和Endopredict测定法是可商购的。在本系统综述中，我们旨在根据四个重要标准评估这些测定：测定开发和方法，临床验证，临床效用和经济价值。

我们进行了涉及PubMed，Embase，Web of Science和Cochrane的文献检索，以研究与四种所选测定法中的一种或多种有关的研究。

我们确定了147篇论文纳入本评价。MammaPrint和OncotypeDX都有证据，包括两种测定的IA级临床试验结果。两种测定均提供预后信息。仅显示了OncotypeDX的预测值。在临床效用研究中，OncotypeDX实现了更高的化疗减少率，尽管可用的研究数量在两次测试之间存在很大差异。平均而言，经济评估估计，基因组测试会导致总费用的适度增加，但相对于预期的患者预后改善，这些费用是可以接受的。PAM50 / prosigna和EndoPredict具有可比的预后能力，但经济性和临床实用性研究较少。此外，对于这些测定，尚无IA级试验数据。

总而言之，所有测定均显示出极好的预后能力。讨论了证据数量和质量的差异。未来的研究应侧重于选择合适的亚组进行测试和验证试验的长期结果，以便确定这些测定法在日常临床实践中的地位。