National Institute for Public Health (RIVM), P.O. Box 1, 3720BA, Bilthoven, The Netherlands.
J Inherit Metab Dis. 2012 Jul;35(4):603-11. doi: 10.1007/s10545-012-9483-0. Epub 2012 May 3.
In many European countries neonatal screening has been introduced over the last 50 years as an important public health programme. Depending on health care structure, available funds, local politics, input from professional groups, parent groups, and the general public this introduction has led to different approaches in the way the screening programmes have been set up, financed and governed. To get some insight about the current situation, in 2009 the European Union, via its EAHC agency, put out a call for a tender that was acquired by our project group. An online survey was compiled in which the whole screening programme was covered by a questionnaire. This survey covered the EU member states, (potential) candidate member states and EFTA countries, in total 40 countries. Results showed little consensus concerning 1. information of parents including informed consent; 2. which conditions are screened for, ranging from 1 to around 30 conditions; 3. sampling time post partum; 4. screening methodology including cut-offs values even between screening laboratories within countries.; 5. storage of residual specimens, varying from 3 months to 1000 years. In addition, confirmatory diagnostics and follow-up also show large discrepancies (Burgard et al. http://www.iss.it/cnmr/prog/cont.php?id=1621&lang=1&tipo=64 2011). In addition to the current practices report an expert opinion document has been produced with recommendations to the EU Commission for future improvements, e.g. in parallel to the way the USA has harmonized its practices based on recommendations by the American College of Medical Genetics (Watson et al., Pediatrics 117: S296-S307, 2006).
在过去的 50 年里,许多欧洲国家已经将新生儿筛查作为一项重要的公共卫生计划引入。根据医疗保健结构、可用资金、当地政治、专业团体、家长团体和公众的意见,这种引入导致了筛查计划在设立、融资和管理方面的不同方法。为了了解当前的情况,2009 年,欧盟通过其 EAHC 机构发布了一项招标,我们的项目组获得了这项招标。我们编制了一份在线调查,其中整个筛查计划都由一份问卷涵盖。这项调查涵盖了欧盟成员国、(潜在)候选成员国和欧洲自由贸易联盟国家,共有 40 个国家。结果表明,在以下方面几乎没有达成共识:1. 包括知情同意在内的父母信息;2. 筛查的条件,从 1 种到大约 30 种条件不等;3. 产后的采样时间;4. 筛查方法,包括截止值,即使在国内的筛查实验室之间也是如此;5. 剩余标本的储存,从 3 个月到 1000 年不等。此外,确认诊断和后续治疗也存在很大差异(Burgard 等人,http://www.iss.it/cnmr/prog/cont.php?id=1621&lang=1&tipo=64 2011)。除了当前的做法,还编写了一份专家意见文件,向欧盟委员会提出了未来改进的建议,例如,在美国根据美国医学遗传学学院的建议(Watson 等人, Pediatrics 117:S296-S307,2006)协调其做法的方式。