Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia; Australian Genomics Health Alliance, Melbourne, VIC, Australia; Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Nephrology, Monash Medical Centre, Melbourne, Australia; Monash University, Melbourne, Australia; The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Australia.
Genet Med. 2023 Nov;25(11):100942. doi: 10.1016/j.gim.2023.100942. Epub 2023 Jul 22.
To assess the relative cost-effectiveness of genomic testing compared with standard non-genomic diagnostic investigations in patients with suspected monogenic kidney disease from an Australian health care system perspective.
Diagnostic and clinical information was used from a national cohort of 349 participants. Simulation modelling captured diagnostic, health, and economic outcomes during a time horizon from clinical presentation until 3 months post-test results based on the outcome of cost per additional diagnosis and lifetime horizon based on cost per quality-adjusted life-year (QALY) gained.
Genomic testing was Australian dollars (AU$) 1600 more costly per patient and led to an additional 27 diagnoses out of a 100 individuals tested, resulting in an incremental cost-effectiveness ratio of AU$5991 per additional diagnosis. Using a lifetime horizon, genomic testing resulted in an additional cost of AU$438 and 0.04 QALYs gained per individual compared with standard diagnostic investigations, corresponding to an incremental cost-effectiveness ratio of AU$10,823 per QALY gained. Sub-group analyses identified that the results were largely driven by the cost-effectiveness in glomerular diseases.
Based on established or expected thresholds of cost-effectiveness, our evidence suggests that genomic testing is very likely to be cost saving for individuals with suspected glomerular diseases, whereas no evidence of cost-effectiveness was found for non-glomerular diseases.
从澳大利亚医疗保健系统的角度出发，评估与标准非基因组诊断研究相比，基因组检测在疑似单基因肾脏疾病患者中的相对成本效益。
利用来自全国 349 名参与者的队列研究的诊断和临床信息。基于每位额外诊断的成本和基于获得的每质量调整生命年（QALY）的成本的成本效益比，模拟建模捕获了诊断、健康和经济结果，在从临床出现到测试结果后 3 个月的时间范围内。
与标准诊断研究相比，基因组检测每位患者增加了 1600 澳元的成本，并且在 100 名接受测试的人中增加了 27 个诊断，导致增量成本效益比为每个额外诊断 5991 澳元。使用终生时间范围，与标准诊断研究相比，基因组检测导致每位个体增加了 438 澳元和 0.04 个 QALY，增量成本效益比为每个获得的 QALY 增加 10823 澳元。亚组分析表明，结果主要是由肾小球疾病的成本效益驱动的。
根据既定或预期的成本效益阈值，我们的证据表明，基因组检测对于疑似肾小球疾病的个体来说很可能具有成本效益，而对于非肾小球疾病则没有发现成本效益的证据。
