Newborn bloodspot screening in the UK - past, present and future
Newborn bloodspot screening in the UK - past, present and future
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DOI：
10.1258/acb.2007.007127
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发表时间：
2008-01-01
影响因子：
2.2
通讯作者：
Pollitt, Rodney
中科院分区：
文献类型：
--
作者：
Downing, Melanie;Pollitt, Rodney
筛查新生儿的遗传性代谢疾病始于20世纪50年代末的英国，当时是苯丙酮尿症的“尿布测试”。1969年，卫生部建议改用由罗伯特古特里和他的同事在美国开发的技术进行血斑筛查。对各种其他疾病（半乳糖血症、枫糖浆尿病、同型胱氨酸尿症、囊性纤维化等）的血斑筛查在局部基础上进行，但直到2000年，官方推荐的唯一额外疾病是先天性甲状腺功能减退症。血红蛋白病筛查于2000年得到官方支持，囊性纤维化筛查于2001年得到官方支持，但实施缓慢，特别是后者。这两种筛查都提出了与遗传隐私和检测儿童携带者状况有关的难题。在过去的十年中，筛查越来越受到中央控制。虽然显然需要一种更加一致和系统的方法，但这无疑减缓了创新的速度。特别是英国已经落后于许多其他欧洲国家的串联质谱（MS-MS）的应用，虽然经过一个重大的试点研究，筛选中链酰基辅酶A脱氢酶缺乏症，现在正在引进的过程中。编纂临床和实验室程序的尝试也证明是有争议的，突出表明该国各地在实践中存在明显差异，难以在一个可行和科学合理的框架内使这些程序合理化。尽管如此，有许多积极的发展和新生儿筛查仍然是一个令人兴奋和有益的领域，在其中工作。
Screening newborn babies for inherited metabolic disease began in the UK in the late 1950s with the 'nappy test' for phenylketonuria. In 1969 the Department of Health recommended changing to bloodspot screening using the techniques developed in the USA by Robert Guthrie and his associates. Bloodspot screening for various other disorders (galactosaemia, maple syrup urine disease, homocystinuria, cystic fibrosis and others) was introduced on a patchy local basis but, until 2000, the only additional disorder officially recommended was congenital hypothyroidism. Screening for haemoglobinopathies received official support in 2000 and for cystic fibrosis in 2001 though implementation was slow, particularly for the latter. Both these screens have raised difficult issues relating to genetic privacy and the detection of carrier status in children. During the last decade screening has become increasingly subject to central control. Though a more consistent and systematic approach was clearly needed, this has undoubtedly slowed the rate of innovation. In particular the UK has lagged behind many other European countries in the application of tandem mass spectrometry (MS-MS) though, following a major pilot study, screening for medium-chain acyl-CoA dehydrogenase deficiency is now in the process of introduction. Attempts to codify clinical and laboratory procedures have also proved controversial, highlighting marked differences in practice in various parts of the country and the difficulty of rationalizing these within a practicable and scientifically justified framework. Notwithstanding this, there are many positive developments and newborn screening remains a stimulating and rewarding field in which to work.