McCabe Linda L, Therrell Bradford L, McCabe Edward R B
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095-1752, USA.
Mol Genet Metab. 2002 Dec;77(4):267-73. doi: 10.1016/s1096-7192(02)00196-8.
Newborn screening has existed for approximately four decades. During that period of time, newborn screening has evolved conceptually from a laboratory test for a single disorder, phenylketonuria (PKU), to a multi-part public health system involving education, screening, diagnostic follow-up, treatment/management, and system evaluation. At a time when newborn screening is recognized as a model for predictive medicine, it also faces critical challenges that will determine its future credibility and viability. In order to understand these challenges, it is helpful to review briefly the history of newborn screening.
新生儿筛查已经存在了大约四十年。在这段时间里，新生儿筛查在概念上已经从针对单一疾病苯丙酮尿症（PKU）的实验室检测，发展成为一个多环节的公共卫生系统，涵盖教育、筛查、诊断随访、治疗/管理以及系统评估。在新生儿筛查被视为预测医学典范的当下，它也面临着一些关键挑战，这些挑战将决定其未来的可信度和生存能力。为了理解这些挑战，简要回顾一下新生儿筛查的历史是很有帮助的。
