Department of Health Management and Policy, University of Michigan, Ann Arbor, MI, USA.
RTI International, Research Triangle Park, NC, USA.
Genet Med. 2021 Apr;23(4):758-766. doi: 10.1038/s41436-020-01038-0. Epub 2020 Dec 7.
To estimate health and economic outcomes associated with newborn screening (NBS) for infantile-onset Pompe disease in the United States.
A decision analytic microsimulation model simulated health and economic outcomes of a birth cohort of 4 million children in the United States. Universal NBS and treatment was compared with clinical identification and treatment of infantile-onset Pompe disease. Main outcomes were projected cases identified, costs, quality-adjusted life-years (QALYs), and incremental cost-effectiveness ratios (ICERs) over the life course.
Universal NBS for Pompe disease and confirmatory testing was estimated to cost an additional $26 million annually. Additional medication costs associated with earlier treatment initiation were $181 million; however, $8 million in medical care costs for other services were averted due to delayed disease progression. Infants with screened and treated infantile-onset Pompe disease experienced an average lifetime increase of 11.66 QALYs compared with clinical detection. The ICER was $379,000/QALY from a societal perspective and $408,000/QALY from the health-care perspective. Results were sensitive to the cost of enzyme replacement therapy.
Newborn screening for Pompe disease results in substantial health gains for individuals with infantile-onset Pompe disease, but with additional costs.
评估美国新生儿筛查（NBS）婴儿期庞贝病的健康和经济结局。
决策分析微模拟模型模拟了美国 400 万儿童出生队列的健康和经济结局。将普遍 NBS 和治疗与婴儿期庞贝病的临床诊断和治疗进行了比较。主要结局是在整个生命过程中预测的确诊病例数、成本、质量调整生命年（QALY）和增量成本效益比（ICER）。
婴儿期庞贝病的普遍 NBS 和确认性检测估计每年额外增加 2600 万美元。由于疾病进展延迟，早期治疗开始时额外的药物治疗费用为 1.81 亿美元，但由于其他服务的医疗费用减少了 800 万美元。与临床检测相比，接受筛查和治疗的婴儿期庞贝病婴儿的平均终生 QALY 增加了 11.66。从社会角度看，ICER 为 37.9 万美元/QALY，从医疗保健角度看，ICER 为 40.8 万美元/QALY。结果对酶替代疗法的成本敏感。
庞贝病的新生儿筛查为婴儿期庞贝病患者带来了显著的健康获益，但也增加了成本。
