Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result
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DOI：
10.1007/s10545-012-9483-0
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发表时间：
2012-07-01
影响因子：
4.2
通讯作者：
Vittozzi, Luciano
中科院分区：
文献类型：
--
作者：
Loeber, J. Gerard;Burgard, Peter;Vittozzi, Luciano
在过去50年中，许多欧洲国家已将新生儿筛查作为一项重要的公共卫生方案引入。根据卫生保健结构、可用资金、地方政治、专业团体、家长团体和公众的投入，这种引进导致了筛查方案的建立、资助和管理方式的不同方法。为了了解目前的情况，2009年，欧盟通过其EAHC机构进行了招标，我们的项目组获得了这一招标。编制了一项在线调查，调查问卷涵盖了整个筛查方案。这项调查涵盖了欧盟成员国、(潜在)候选成员国和EFTA国家，共40个国家。结果显示，在以下方面几乎没有达成共识：1.父母的信息，包括知情同意；2.筛查哪些条件，从1个条件到大约30个条件；3.产后采样时间；4.筛查方法，包括各国筛查实验室之间的分界值；5.剩余标本的储存，从3个月到1000年不等。此外，验证性诊断和随访也显示出很大的差异(Burgard等人。Http://www.iss.it/cnmr/prog/cont.php?id=1621&lang=1&tipo=64 2011年)。除了目前的实践报告外，还编制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，与美国根据美国医学遗传学学院的建议协调其实践的方式同时(Watson等，儿科117：S296-S307,2006)。
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).