GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Department of Economics, Faculty of Business and Economics, Macquarie University, Sydney, NSW, Australia.
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Genet Med. 2019 Nov;21(11):2586-2593. doi: 10.1038/s41436-019-0534-x. Epub 2019 May 21.
To undertake the first end-to-end cost-effectiveness analysis of exome sequencing (ES) in rare disease diagnosis.
A cohort of 80 infants who underwent ES and usual diagnostic care in parallel were used to model incremental cost and health outcomes (quality adjusted life-years, QALYs) attributable to ES diagnosis over a 20-year horizon. Three models were developed: (1) outcomes in patients only, (2) outcomes in patients and first-degree relatives as a result of cascade testing, and (3) outcomes in patients and first-degree relatives including parental reproductive outcomes.
When the directly observed cost and health outcomes of the cohort participants were projected, the use of ES resulted in a gain of 7.39 QALYs and an incremental cost-effectiveness ratio (ICER) of AU$31,144.35 (i.e., cost per additional QALY gained). When cascade testing in first-degree relatives was added, cost-effectiveness increased, to a gain of 11.62 QALYs and an ICER of AU$20,839.57. When parental reproductive outcomes were added, cost-effectiveness increased again, with 36.00 QALYs gained and an ICER of AU$14,235.28.
Use of ES in suspected monogenic disorders becomes increasingly cost-effective as the benefits of ES data reanalysis, cascade testing in first-degree relatives, and parental reproductive outcomes are incorporated into modeling.
对罕见病诊断中外显子组测序（ES）进行首次端到端成本效益分析。
本研究纳入了 80 名同时接受 ES 和常规诊断的婴儿队列，用于建立模型以评估 ES 诊断在 20 年内的增量成本和健康结果（质量调整生命年，QALYs）。建立了 3 种模型：（1）仅患者的结果；（2）由于级联测试而导致患者和一级亲属的结果；（3）包括父母生殖结果在内的患者和一级亲属的结果。
当对队列参与者的直接观察成本和健康结果进行预测时，使用 ES 可获得 7.39 个 QALYs 的收益，增量成本效益比（ICER）为 31,144.35 澳元（即每获得额外一个 QALY 的成本）。当在一级亲属中进行级联测试时，成本效益增加，获得 11.62 个 QALYs，ICER 为 20,839.57 澳元。当纳入父母生殖结果时，成本效益再次增加，获得 36.00 个 QALYs，ICER 为 14,235.28 澳元。
随着 ES 数据分析再利用、一级亲属级联测试和父母生殖结果的获益纳入模型，ES 在疑似单基因疾病中的应用变得越来越具有成本效益。
