McGhee Sean A, Stiehm E Richard, McCabe Edward R B
Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, 90095-1752, USA.
J Pediatr. 2005 Nov;147(5):603-8. doi: 10.1016/j.jpeds.2005.06.001.
Severe combined immunodeficiency (SCID) is a rare, treatable disorder of the immune system. The incidence is unknown but may be more common than published estimates because infants frequently die of infection before diagnosis. SCID is a candidate for universal newborn screening, so there is a need to determine under which circumstances screening would be cost-effective.
We assumed a screening program for SCID would use T-cell lymphopenia as the screening criterion and performed a cost-utility analysis comparing universal screening with screening only those with a family history of SCID.
Assuming society is willing to pay $50,000 for every quality-adjusted life-year saved, a SCID screening test that cost less than $5 with a false-negative rate of 0.9% and a false-positive rate of 0.4% would be considered cost-effective. A nationwide screening program would cost an additional $23.9 million per year for screening costs but would result in 760 years of life saved per year of screening. The cost to detect 1 case of SCID would be $485,000.
SCID screening could result in a large benefit to detected individuals, making screening relatively cost-effective in spite of the low incidence of the disease. However, an adequate test is critical to cost-effectiveness.
重症联合免疫缺陷病（SCID）是一种罕见的、可治疗的免疫系统疾病。其发病率尚不清楚，但可能比已公布的估计更为常见，因为婴儿常在诊断前死于感染。SCID是新生儿普遍筛查的候选疾病，因此有必要确定在何种情况下筛查具有成本效益。
我们假设针对SCID的筛查项目将采用T细胞淋巴细胞减少作为筛查标准，并进行了成本效用分析，比较了普遍筛查与仅对有SCID家族史者进行筛查的情况。
假设社会愿意为每挽救一个质量调整生命年支付5万美元，那么成本低于5美元、假阴性率为0.9%且假阳性率为0.4%的SCID筛查试验将被认为具有成本效益。全国性的筛查项目每年将增加2390万美元的筛查成本，但每年的筛查将挽救760个生命年。检测出1例SCID的成本将为48.5万美元。
SCID筛查可为被检测个体带来巨大益处，尽管该疾病发病率较低，但筛查仍具有相对成本效益。然而，合适的检测方法对成本效益至关重要。
