NIPT 的范围是否应受到 "严重程度阈值 "的限制?

IF 3.7 2区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
Michelle Taylor-Sands, Molly Johnston, Catherine Mills
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引用次数: 0

摘要

无创产前检测(NIPT)有可能在怀孕早期以最小的风险筛查出比目前更多的遗传病。因此,有人呼吁采用 "严重性阈值 "来限制检测病症的范围。这种做法是基于对整个社会的担忧以及对社会中特定群体的潜在影响。在本文中,我们认为使用 "严重程度 "标准来限制 NIPT 的范围是武断的,有可能使某些残疾比其他残疾更具污名化,并且没有尊重生育自主权。我们认为,通过提供充分的信息、咨询和同意程序来解决对扩大 NIPT 范围的担忧更为恰当。我们建议采用一种决策程序,帮助医疗服务提供者支持准父母根据自己的价值观和社会背景,就 NIPT 筛查的性质和范围做出知情决定。除了解决人们对扩大 NIPT 筛查范围的担忧外,该流程还有助于临床医生获得具有法律效力的同意,并履行其产前护理职责(包括告知职责)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Should the scope of NIPT be limited by a 'threshold of seriousness'?

Non-invasive prenatal testing (NIPT) has the potential to screen for a wider range of genetic conditions than is currently possible at an early stage of pregnancy and with minimal risks. As such, there have been calls to apply a 'threshold of seriousness' to limit the scope of conditions being tested. This approach is based on concerns about society at large and the potential impact on specific groups within it. In this paper, we argue that limiting the scope of NIPT using the criterion of 'seriousness' is arbitrary, potentially stigmatises certain disabilities over others and fails to respect reproductive autonomy. We contend that concerns about expanded NIPT are more appropriately addressed by the provision of adequate information, counselling and consent procedures. We recommend a decision-making process that helps healthcare providers support prospective parents to make informed decisions about the nature and scope of NIPT screening based on their own values and social context. In addition to addressing concerns about expanded NIPT screening, this process would help clinicians to obtain legally valid consent and discharge their duty of care (including the duty to inform) in the prenatal context.

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来源期刊
European Journal of Human Genetics
European Journal of Human Genetics 生物-生化与分子生物学
CiteScore
9.90
自引率
5.80%
发文量
216
审稿时长
2 months
期刊介绍: The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community. Key areas include: -Monogenic and multifactorial disorders -Development and malformation -Hereditary cancer -Medical Genomics -Gene mapping and functional studies -Genotype-phenotype correlations -Genetic variation and genome diversity -Statistical and computational genetics -Bioinformatics -Advances in diagnostics -Therapy and prevention -Animal models -Genetic services -Community genetics
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