Therrell B L
Department of Pediatrics, University of Texas Health Science Center at San Antonio, Austin, Texas 78757, USA.
Mol Genet Metab. 2001 Sep-Oct;74(1-2):64-74. doi: 10.1006/mgme.2001.3238.
Newborn screening has traditionally referred to biochemical testing for inherited disorders, generally metabolic in origin, that are usually correctable by dietary or drug interventions. As new tests have been developed, state public health newborn screening systems have slowly evolved without the benefit of national policies. Thus, newborn screening program changes, when viewed nationally, have been uncoordinated. The net result has been unequally applied mandated screening and, consequently, unequal availability of related public health disease prevention services. Technological advances in laboratory testing over the past 10 years have resulted in limited program changes in some state newborn screening systems, and even greater program disparities. A recent Newborn Screening Task Force identified numerous issues of concern and proposed elements for a plan of action involving public health programs, healthcare providers, and consumers. This minireview details past policy history in newborn screening and identifies some of the current issues confronting programs as they seek to move ahead with the technologies and medical treatments for the twenty-first century.
传统上，新生儿筛查是指针对遗传性疾病进行的生化检测，这些疾病通常起源于代谢紊乱，通常可通过饮食或药物干预得到纠正。随着新检测方法的开发，各州公共卫生新生儿筛查系统在没有国家政策支持的情况下缓慢发展。因此，从全国范围来看，新生儿筛查项目的变化缺乏协调性。其最终结果是法定筛查的应用不均衡，相关公共卫生疾病预防服务的可及性也不平等。过去十年实验室检测技术的进步在一些州的新生儿筛查系统中导致项目变化有限，甚至项目差距更大。最近的一个新生儿筛查特别工作组确定了许多令人关切的问题，并提出了一项行动计划要点，该计划涉及公共卫生项目、医疗服务提供者和消费者。这篇小型综述详细介绍了新生儿筛查的既往政策历史，并指出了项目在寻求采用21世纪的技术和医疗手段向前发展时面临的一些当前问题。
