Carroll Aaron E, Downs Stephen M
Children's Health Services Research, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Pediatrics. 2006 May;117(5 Pt 2):S287-95. doi: 10.1542/peds.2005-2633H.
Inborn errors of metabolism are a significant cause of morbidity and death among children. Inconsistencies in how individual states arrive at screening strategies, however, lead to marked variations in testing between states.
To determine the cost-effectiveness of each component test of a multitest newborn screening program, including screening for phenylketonuria, congenital adrenal hyperplasia, congenital hypothyroidism, biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria, and medium-chain acyl-CoA dehydrogenase deficiency.
A decision model was used, with cohort studies, government reports, secondary analyses, and other sources. Discounted costs, quality-adjusted life-years (QALYs), and incremental cost-effectiveness ratios were measured.
All except 2 screening tests dominated the "no-test" strategy. The 2 exceptions were screening for congenital adrenal hyperplasia, which cost slightly more than $20,000 per QALY gained, and screening for galactosemia, which cost $94,000 per QALY gained. The screening test with the lowest expected cost was tandem mass spectrometry. The results found in our base-case analysis were stable across variations in nearly all variables. In instances in which changes in risks, sequelae, costs, or utilities did affect our results, the variation from base-case estimates was quite large.
Newborn screening seems to be one of the rare health care interventions that is beneficial to patients and, in many cases, cost saving. Over the long term, funding comprehensive newborn screening programs is likely to save money for society.
先天性代谢缺陷是儿童发病和死亡的重要原因。然而，各州在制定筛查策略时存在不一致性，导致各州之间的检测存在显著差异。
确定多项新生儿筛查项目中每项组成检测的成本效益，包括苯丙酮尿症、先天性肾上腺皮质增生症、先天性甲状腺功能减退症、生物素酶缺乏症、枫糖尿症、半乳糖血症、高胱氨酸尿症和中链酰基辅酶A脱氢酶缺乏症的筛查。
使用决策模型，参考队列研究、政府报告、二次分析及其他资料来源。测量贴现成本、质量调整生命年（QALYs）和增量成本效益比。
除2项筛查检测外，其他所有检测均优于“不检测”策略。这2个例外是先天性肾上腺皮质增生症筛查，每获得1个QALY的成本略高于20,000美元，以及半乳糖血症筛查，每获得1个QALY的成本为94,000美元。预期成本最低的筛查检测是串联质谱法。我们在基础病例分析中得到的结果在几乎所有变量的变化中都很稳定。在风险、后遗症、成本或效用的变化确实影响我们结果的情况下，与基础病例估计值的差异相当大。
新生儿筛查似乎是少数对患者有益且在许多情况下能节省成本的医疗保健干预措施之一。从长远来看，为全面的新生儿筛查项目提供资金可能会为社会节省资金。
