Advantages of expanded universal carrier screening: what is at stake?
Advantages of expanded universal carrier screening: what is at stake?
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DOI：
10.1038/ejhg.2016.125
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发表时间：
2017-01-01
影响因子：
5.2
通讯作者：
Dondorp, Wybo J.
中科院分区：
文献类型：
--
作者：
van der Hout, Sanne;Holtkamp, Kim C. A.;Dondorp, Wybo J.
扩大的普遍携带者筛查（EUCS）需要对长期（怀孕前）携带者筛查方案进行双重扩展：它不仅允许同时筛查大量疾病（“扩大”），而且还涉及泛种族筛查（“普遍”）。倡导者提到与传统的（有针对性的和/或基于祖先的）携带者筛查形式相比，EUCS的三个主要道德优势：EUCS将（1）通过告知未来父母更广泛的生殖风险，最大限度地增加自主生殖选择的机会;（2）提供公平的携带者检测服务;（3）减少污名化的风险。本实证伦理研究旨在扩大这一帐户，并提供了一个平衡的潜在利弊的EUCS图片。半结构化的采访进行了17个卫生（政策）专业人员和患者组织的代表，他们对载体筛选的意见，包括可能的EUCS方案。利益相关者承认EUCS的潜在好处，但也表达了五个主要的道德问题：（1）EUCS是否应对紧急问题或人口需求？(2)是否有可能为夫妇提供关于EUCS的可理解和充分的信息？(3)EUCS将如何改变社会对“生殖责任”的看法？(4)EUCS是否会导致对高危人群的护理水平降低？(5)欧盟公民安全委员会是否会强化基于残疾的污名化？虽然EUCS有可能克服传统载体筛选中固有的一些道德限制，但它本身也面临着道德挑战。需要更多的研究来（进一步）预测EUCS的伦理和实际后果。
Expanded universal carrier screening (EUCS) entails a twofold expansion of long-standing (preconception) carrier screening programmes: it not only allows the simultaneous screening of a large list of diseases ('expanded'), but also refers to a pan-ethnic screening offer ('universal'). Advocates mention three main moral advantages of EUCS as compared with traditional (targeted and/or ancestry-based) forms of carrier screening: EUCS will (1) maximise opportunities for autonomous reproductive choice by informing prospective parents about a much wider array of reproductive risks; (2) provide equity of access to carrier testing services; (3) reduce the risk of stigmatisation. This empirical ethics study aims to widen this account and provide a balanced picture of the potential pros and cons of EUCS. Semi-structured interviews were conducted with 17 health (policy) professionals and representatives of patient organisations about their views on carrier screening including a possible EUCS scenario. Stakeholders acknowledged the potential benefits of EUCS, but also expressed five main moral concerns: (1) Does EUCS respond to an urgent problem or population need? (2) Is it possible to offer couples both understandable and sufficient information about EUCS? (3) How will societal views on 'reproductive responsibility' change as a result of EUCS? (4) Will EUCS lead to a lower level of care for high-risk populations? (5) Will EUCS reinforce disability-based stigmatisation? While having the potential to overcome some moral limits inherent in traditional carrier screening, EUCS comes with moral challenges of its own. More research is needed to (further) anticipate the ethical and practical consequences of EUCS.