Nearly 56% of at-risk carriers are not identified and missed as a result of the current family-history (FH) screening for genetic testing. The present study aims to review the economic evaluation studies on BRCA genetic testing strategies for screening and early detection of breast cancer. This systematic literature review is conducted within the Cochrane Library, PubMed, Scopus, Web of Science, ProQuest, and EMBASE databases. In this paper, the relevant published economic evaluation studies are identified by following the standard Cochrane Collaboration methods and adherence to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement reporting some recommendations for articles up to March 2020. Thereafter, the inclusion and exclusion criteria are applied to screen the articles. Disagreements are resolved through a consensus meeting. The Consolidated Health Economic Evaluation Reporting Standards (CHEERS) checklist is used in the evaluation of quality. Finally, a narrative synthesis is performed. To compare the different levels of incremental cost-effectiveness ratio (ICER), the net present value is calculated based on a discount rate of 3% in 2019. Among 788 initially retrieved citations, 12 studies were included. More than 60% of the studies were originated from high-income countries and were published after 2016. It is noteworthy that most of the studies evaluated the payer perspective. Moreover, the robustness of the results were analyzed through one-way and probabilistic sensitivity analyses in nearly 66% of these studies. Nearly, 25% of the studies are focused and defined population-based and family history BRCA tests as comparators; afterwards, the cost-effectiveness of the former was confirmed. The highest and lowest absolute values for the ICERs were $65,661 and $9 per quality adjusted life years, respectively. All studies met over 70% of the CHEERs criteria checklist, which was considered as 93% of high quality on average as well. The genetic BRCA tests for the general population as well as unselected breast cancer patients were cost-effective in high and upper-middle income countries and those with prevalence of gene mutation while population-based genetic tests for low-middle income countries are depended on the price of the tests.

中文翻译：

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基于人群或家族史的乳腺癌 BRCA 基因检测？经济评估的系统回顾

由于目前的基因检测家族史 (FH) 筛查，近 56% 的高危携带者未被识别和漏掉。本研究旨在综述用于乳腺癌筛查和早期发现的BRCA基因检测策略的经济评价研究。本系统文献综述是在 Cochrane 图书馆、PubMed、Scopus、Web of Science、ProQuest 和 EMBASE 数据库中进行的。在本文中，通过遵循标准 Cochrane 协作方法并遵守系统评价和荟萃分析的首选报告项目 (PRISMA) 声明来确定相关已发表的经济评估研究，该声明报告了截至 2020 年 3 月的文章的一些建议。应用纳入和排除标准来筛选文章。分歧通过协商一致会议解决。综合卫生经济评估报告标准 (CHEERS) 检查表用于质量评估。最后进行叙事综合。为了比较不同水平的增量成本效益比（ICER），按照2019年3%的折现率计算净现值。在初步检索到的788篇引文中，纳入了12篇研究。超过60%的研究来自高收入国家，并于2016年之后发表。值得注意的是，大多数研究评估的是付款人的角度。此外，近 66% 的研究通过单向概率敏感性分析对结果的稳健性进行了分析。近 25% 的研究重点关注并定义基于人群和家族史的 BRCA 测试作为比较器；随后，证实了前者的成本效益。ICER 的最高和最低绝对值分别为每个质量调整生命年 65,661 美元和 9 美元。所有研究均满足 CHEER 标准清单的 70% 以上，平均而言也被认为是高质量的 93%。在高收入和中高收入国家以及基因突变流行的国家，针对普通人群以及未经选择的乳腺癌患者进行 BRCA 基因检测具有成本效益，而中低收入国家的基于人群的基因检测则取决于测试的价格。