Asphaug Lars, Melberg Hans Olav
Department of Health Management and Health Economics, University of Oslo, Oslo, Norway.
MDM Policy Pract. 2019 Feb 1;4(1):2381468318821103. doi: 10.1177/2381468318821103. eCollection 2019 Jan-Jun.
Expansion of routine genetic testing for hereditary breast and ovarian cancer from conventional testing to a multigene test could improve diagnostic yield and increase the opportunity for cancer prevention in both identified carriers and their relatives. We use an economic decision model to assess whether the current knowledge on non- mutation prevalence, cancer risk, and patient preferences justifies switching to a multigene panel for testing of early-onset breast cancer patients. We evaluated routine testing by testing, a 7-gene panel, and a 14-gene panel using individual-level simulations of annual health state transitions over a lifetime perspective. Breast and ovarian cancer incidence is reduced and posttreatment survival is improved when high-risk mutations are detected and risk-reducing treatment offered. Most model inputs were synthesized from published literature. Intermediate health outcomes included breast and ovarian cancer incidence rates, along with organ-specific cancer mortality. Cost-effectiveness outcomes were health sector costs and quality-adjusted life years. Intermediate health outcomes improved by testing with multigene panels. At a cost-effectiveness threshold of $77,000, a 7-gene panel test with five non- genes was the optimal strategy with an incremental cost-effectiveness ratio of $53,310 per quality-adjusted life year compared to -only testing. Unable to stratify carriers to specific mutations within genes, we can only make predictions on the gene level, with combined risk estimates for known variants. As mutation prevalence is the absolute upper bound of returns to more expansive testing, the rarity of modelled mutations makes analysis outcomes sensitive to model implementation. A 7-gene panel to diagnose hereditary breast and ovarian cancer in early-onset breast cancer patients can be a cost-effective alternative to current -only testing in Norway.
将遗传性乳腺癌和卵巢癌的常规基因检测从传统检测扩展到多基因检测,可提高诊断率,并增加已确诊携带者及其亲属预防癌症的机会。我们使用一种经济决策模型来评估,目前关于非突变患病率、癌症风险和患者偏好的知识,是否足以证明应转而使用多基因检测板对早发性乳腺癌患者进行检测。我们从终身视角对年度健康状态转变进行个体层面模拟,评估了通过常规检测、一个7基因检测板和一个14基因检测板进行的常规检测。当检测到高风险突变并提供降低风险的治疗时,乳腺癌和卵巢癌的发病率会降低,治疗后的生存率会提高。大多数模型输入数据是从已发表的文献中综合而来的。中间健康结果包括乳腺癌和卵巢癌发病率,以及特定器官的癌症死亡率。成本效益结果是卫生部门成本和质量调整生命年。使用多基因检测板进行检测可改善中间健康结果。在成本效益阈值为77,000美元的情况下,一个包含五个非基因的7基因检测板检测是最优策略,与仅进行常规检测相比,每质量调整生命年的增量成本效益比为53,310美元。由于无法将携带者分层到基因内的特定突变,我们只能在基因水平上进行预测,并对已知变异进行综合风险估计。由于突变患病率是更广泛检测回报的绝对上限,模型中突变的罕见性使得分析结果对模型实施敏感。在挪威,一个用于诊断早发性乳腺癌患者遗传性乳腺癌和卵巢癌的7基因检测板,可能是目前仅进行常规检测的一种具有成本效益的替代方案。