A vision of the future of newborn screening
A vision of the future of newborn screening
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DOI：
10.1542/peds.2005-2633o
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发表时间：
2006-05-01
期刊：
影响因子：
8
通讯作者：
van Dyck, PC
中科院分区：
文献类型：
--
作者：
Alexander, D;van Dyck, PC
40年来，新生儿筛查已发展成为预防性公共卫生的一个标准组成部分。尽管它被广泛接受，但需要作出努力来克服一些重大问题。各州常规筛查的条件存在不公平，而且由于经济或后勤原因，许多可以筛查的条件没有被筛查。现有的（串联质谱法）和潜在的（DNA微阵列）技术可以开发和实施，以纠正这些现有的缺点。要做到这一点，需要对技术进行投资，结合公共和专业教育，并提供高质量、可获得的诊断确认、家庭咨询、开始治疗系统，以及参与开发新疗法或改进疗法的研究的机会。
In 40 years, newborn screening has evolved to become a standard component of preventive public health. Despite its widespread acceptance, efforts need to be made to overcome some significant problems. There is inequity in the conditions for which states screen routinely, and many conditions that could be screened for are not, for economic or logistic reasons. Existing (tandem mass spectrometry) and potential ( DNA microarray) technologies could be developed and put in place to correct these existing shortcomings. To do so will require investment in the technologies, combined with public and professional education and provision of a high-quality, accessible system for confirmation of diagnoses, family counseling, initiation of treatment, and the opportunity to participate in research to develop new or improved therapies.