Lindsay Daniel, Henden Andrea, Nelles Ricky, Elliott Thomas M, Collins Louisa G
Population Health, QIMR Berghofer Medical Research Institute, Locked Bag 2000, Royal Brisbane Hospital Q4029, Brisbane, QLD, Australia.
Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia.
Appl Health Econ Health Policy. 2025 May;23(3):507-517. doi: 10.1007/s40258-024-00927-8. Epub 2024 Nov 13.
Genomic risk stratification methods for myeloid malignancies have moved beyond conventional karyotyping and single gene approaches to better define disease behaviour. Next-generation sequencing has been established as the new standard-of-care tool to accurately define prognosis at diagnosis and guide therapy decisions. We aimed to determine the economic value of a 37-gene panel test for informing subsequent care for patients with intermediate-risk myeloid malignancies.
We performed an exploratory cost-utility analysis of a 37-gene panel test to inform stem cell transplantation therapy in patients with myeloid malignancies in Queensland, Australia. Clinician surveys provided data on management choice with and without genomics information while both published and individual-level data were used for healthcare costs, quality of life, relapse rates and survival data. We used a decision-analytic cohort model with Markov chains and 5000 simulations to derive the incremental cost per quality-adjusted life year (QALY) gained. Scenario, one-way and probabilistic sensitivity analyses were undertaken to test input variation on the stability of the main findings.
Over 10 years, the model predicted mean costs of AU$125,561 for the panel testing strategy and AU$117,045 for usual care, indicating an incremental cost of AU$8516 for panel testing. The corresponding mean QALYs were 4.52 for panel testing and 4.46 for usual care, producing a cost of AU$153,854 per QALY gained. In the Australian system, the likelihood that panel testing would be cost effective was <1 % and would have a more favourable cost-effective profile at a willingness-to-pay of AU$140,000 per QALY gained.
Driven by small gains in survival and relapse rates following therapies, genomic panel sequencing for myeloid malignancies in people with intermediate-risk disease is unlikely to be cost effective in Australia.
髓系恶性肿瘤的基因组风险分层方法已超越传统的核型分析和单基因方法，以更好地界定疾病行为。新一代测序已成为准确界定诊断时预后并指导治疗决策的新的标准治疗工具。我们旨在确定一项37基因检测 panel 对中危髓系恶性肿瘤患者后续治疗的经济价值。
我们对一项37基因检测 panel 进行了探索性成本效益分析，以指导澳大利亚昆士兰州髓系恶性肿瘤患者的干细胞移植治疗。临床医生调查提供了有无基因组信息时管理选择的数据，同时已发表数据和个体层面数据用于医疗保健成本、生活质量、复发率和生存数据。我们使用具有马尔可夫链和5000次模拟的决策分析队列模型来得出每获得一个质量调整生命年（QALY）的增量成本。进行了情景分析、单因素和概率敏感性分析，以测试输入变量对主要结果稳定性的影响。
在10年期间，该模型预测检测 panel 策略的平均成本为125,561澳元，常规治疗为117,045澳元，表明检测 panel 的增量成本为8516澳元。相应的平均QALY，检测 panel 为4.52，常规治疗为4.46，每获得一个QALY的成本为153,854澳元。在澳大利亚的体系中，检测 panel 具有成本效益的可能性<1%，在每获得一个QALY的支付意愿为140,000澳元时，将具有更有利的成本效益情况。
受治疗后生存率和复发率的小幅提高推动，对于澳大利亚中危疾病患者的髓系恶性肿瘤进行基因组检测 panel 测序不太可能具有成本效益。
