Currents in Contemporary Ethics
Currents in Contemporary Ethics
复制标题
DOI：
10.1111/j.1748-720x.2010.00522.x
复制
发表时间：
2010-09-01
影响因子：
2.1
通讯作者：
Clayton, Ellen Wright
中科院分区：
文献类型：
--
作者：
Clayton, Ellen Wright
家长、医疗服务提供者、政策制定者和公众需要讨论基因组技术的进步对国家运营的新生儿代谢筛查项目的影响。高度多重检测和全基因组测序等技术正在以新的紧迫性提出老问题，并带来可能压垮新生儿筛查项目的新挑战。目前形式的新生儿筛查项目诞生于 20 世纪 60 年代末。罗伯特·格思里 (Robert Guthrie) 开发了一种苯丙酮尿症 (PKU) 筛查测试，可对格思里 (Guthrie) 也开发的过滤卡上收集的血点进行检测。为了响应遗传学家和家长的倡导，各州迅速制定了新生儿筛查计划，该计划几乎总是强制性的。尽管这些项目最初的形式各不相同，并且遭到了医学界的强烈反对，但到 20 世纪 70 年代初，所有州都建立了具有集中实验室的项目，医学界也加入了进来。
Parents, providers, policy makers, and the public need to talk about the implications of advances in genomic technologies for state run newborn metabolic screening programs. Technologies, such as highly multiplex testing and whole genome sequencing, are raising old issues with new urgency and are posing new challenges that threaten to overwhelm newborn screening programs.Newborn screening programs in their current form were born in the late 1960s. Robert Guthrie developed a screening test for phenylketonuria (PKU) that could be performed on blood spots collected on filter cards that Guthrie also developed. States rapidly established newborn screening programs, which were almost always mandatory, in response to advocacy by geneticists and parents. Although the programs initially varied in form and experienced significant pushback from the medical community, by the early 1970s, all states had established programs with centralized laboratories, and the medical community had come on board.