Menzies Institute for Medical Research, Medical Science 2 Building, University of Tasmania, 17 Liverpool St, Private Bag 23, Hobart, TAS, 7000, Australia.
School of Medicine, Medical Science 1 Building, University of Tasmania, 17 Liverpool St, Private Bag 68, Hobart, TAS, 7000, Australia.
Appl Health Econ Health Policy. 2017 Aug;15(4):521-534. doi: 10.1007/s40258-016-0297-3.
Amongst populations of northern European ancestry, HFE-associated haemochromatosis is a common genetic disorder characterised by iron overload. In the absence of treatment, excess iron is stored in parenchymal tissues, causing morbidity and mortality. Population screening programmes may increase early diagnosis and reduce associated disease. No contemporary health economic evaluation has been published for Australia. The objective of this study was to identify cost-effective screening strategies for haemochromatosis in the Australian setting.
A Markov model using probabilistic decision analysis was developed comparing four adult screening strategies: the status quo (cascade and incidental screening), genotyping with blood and buccal samples and transferrin saturation followed by genotyping (TfS). Target populations were males (30 years) and females (45 years) of northern European ancestry. Cost-effectiveness was estimated from the government perspective over a lifetime horizon.
All strategies for males were cost-effective compared to the status quo. The incremental costs (standard deviation) associated with genotyping (blood) were AUD7 (56), TfS AUD15 (45) and genotyping (buccal) AUD63 (56), producing ICERs of AUD1673, 4103 and 15,233/quality-adjusted life-year (QALY) gained, respectively. For females, only the TfS strategy was cost-effective, producing an ICER of AUD10,195/QALY gained. Approximately 3% of C282Y homozygotes were estimated to be identified with the status quo approach, compared with 40% with the proposed screening strategies.
This model estimated that genotyping and TfS strategies are likely to be more cost-effective screening strategies than the status quo.
在北欧血统人群中，HFE 相关血色病是一种常见的遗传性疾病，其特征是铁过载。如果不治疗，多余的铁会储存在实质组织中，导致发病率和死亡率上升。人群筛查计划可能会增加早期诊断并降低相关疾病的发生率。目前尚未发表针对澳大利亚的卫生经济学评价。本研究旨在确定澳大利亚血色病的具有成本效益的筛查策略。
使用概率决策分析的 Markov 模型，对四种成人筛查策略进行了比较：现状（级联和偶然筛查）、血液和口腔样本基因分型以及转铁蛋白饱和度后基因分型（TfS）。目标人群为北欧血统的男性（30 岁）和女性（45 岁）。从政府角度，在终生时间范围内评估成本效益。
与现状相比，所有男性策略都具有成本效益。与现状相比，基因分型（血液）的增量成本（标准差）为 7 澳元（56 澳分）、TfS 为 15 澳元（45 澳分）和基因分型（口腔）为 63 澳元（56 澳分），产生的增量成本效益比（ICER）分别为 1673 澳元、4103 澳元和 15233 澳元/质量调整生命年（QALY）。对于女性，只有 TfS 策略具有成本效益，产生的 ICER 为 10195 澳元/QALY。据估计，现状方法可识别约 3%的 C282Y 纯合子，而提议的筛查策略可识别 40%。
该模型估计，基因分型和 TfS 策略可能比现状更具成本效益。
