Expanded Newborn Screening: A Chess Board Motif in Public Health

A. Polizzi, P. Carbone, D. Taruscio
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引用次数: 3

Abstract

Abstract Inborn errors of metabolism (IEM) include a large number of genetic disorders caused by lack of functional proteins that result in a blockage of the corresponding metabolic pathway essential for cellular life. IEM are rare or even very rare conditions, whereas with a collective incidence comprised from 1:800 to 1:2,500 live births. Approximately half of all IEM can be treated biochemically, although the success of such treatment is variable. IEM (especially in the neonatal age) may have a rapid evolution to severe and irreversible neurological and mental deficits, coma, and death. Early diagnosis, allowing presymptomatic treatment, can ameliorate prognosis, prevent severe permanent sequelae, and in certain cases avoid death. To ensure accurate diagnosis, effective treatment, and appropriate follow-up, preventive medicine have implemented for IEM screening programs as a powerful tool of secondary prevention. In this respect, expanded newborn screening programs have increased dramatically in the past decade although the number of diseases included in the screening panel varies from state to state. As a consequence, some nations screen for only one or two IEM, some others for several more (up to a few dozen IEM) leading to an inequality of preventive measures in such as delicate fields. Criteria to support and include screening for a specific condition in each country stand from legislation, financial costs prevalence of the disease in that country, availability of treatments, and dedicated funding sources. Currently, lack of sound and complete evidence, as well as different interpretations of the best evidence available, could also be among the factors contributing to the different screening panels across diverse countries worldwide. Within this view, the recommendable approach to assess current newborn screening programs should be based on the methodologies of health technology assessment, taking into account health economics evidence and ethics applied to well-being policies.
扩大新生儿筛查:公共卫生的棋盘主题
先天性代谢错误(ineborn errors of metabolism, IEM)包括由于缺乏功能性蛋白而导致细胞生命所必需的相应代谢途径被阻断的大量遗传疾病。IEM是罕见甚至非常罕见的疾病,而其总发病率为1:800至1:25 500活产。大约一半的IEM可以用生物化学方法治疗,尽管这种治疗的成功是可变的。IEM(特别是在新生儿年龄)可能会迅速发展为严重和不可逆转的神经和智力缺陷、昏迷和死亡。早期诊断,允许症状前治疗,可以改善预后,防止严重的永久性后遗症,并在某些情况下避免死亡。为了确保准确的诊断、有效的治疗和适当的随访,预防医学已经实施了IEM筛查计划,作为二级预防的有力工具。在这方面,扩大的新生儿筛查项目在过去十年中急剧增加,尽管筛查小组中包括的疾病数量因州而异。因此,一些国家只筛查一到两个IEM,而另一些国家则筛查几个(多达几十个)IEM,导致在诸如脆弱领域的预防措施不平等。支持并包括在每个国家对特定疾病进行筛查的标准取决于立法、财政成本、该国疾病的流行程度、治疗的可得性以及专门的资金来源。目前,缺乏可靠和完整的证据,以及对现有最佳证据的不同解释,也可能是造成世界各地不同国家筛查小组不同的因素之一。根据这一观点,评估当前新生儿筛查方案的推荐方法应以卫生技术评估方法为基础,考虑到卫生经济学证据和适用于福利政策的伦理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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