What Really Matters Now in Prenatal Genetics.
What Really Matters Now in Prenatal Genetics.
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DOI：
10.1080/15265161.2021.2013990
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发表时间：
2022-03
影响因子：
13.4
通讯作者：
Allyse, Megan A.
中科院分区：
文献类型：
--
作者：
Michie, Marsha;Allyse, Megan A.
我们有兴趣阅读当前的目标文章（Bayefsky and Berkman 2022），因为我们钦佩资深作者十年前对这些相同主题的全面报道（Donley，船体和Berkman 2012）。作为美国国立卫生研究院（NIH）目前在产前基因检测伦理问题上赠款的领导者，我们和许多同事沿着，十多年来一直关注产前基因检测的转型和扩张，我们惊讶地听到，生物伦理学领域已经“推迟”了对这些伦理、法律的和社会复杂性的讨论。我们同样惊讶地听到作者预测在“不太遥远的将来”，产前基因检测的扩展面板将在临床上使用。这样的面板，包括胎儿外显子组测序，已经在临床上广泛使用。与2012年那篇文章的先见之明相比，目前的尝试要么有问题，要么无关紧要。开始，作者的建议是破坏了反复过度概括和过时的特点，目前的产前护理状态。与作者的说法相反，产前广泛测序已经在临床上可用，因此认为这项技术的临床应用是新生的或未来的想法是不知情的。即使作者的意思是暗示WGS/WES可能成为一种通过扩增产前无细胞DNA（NIPS/NIPT）进行的筛查测试，荷兰多年来一直使用专有的WGS方法来分析NIPS样本。此外，目标产品在这些非常不同的产前检测技术和背景之间表现出相当大的相似性和滑动性。NIPS是一种对单基因疾病和CNVs预测价值较低的筛查测试，而来自羊膜样本的基因组或外显子组测序具有诊断水平的分析实用性，但作者没有区分这些。同样，作者声称ACMG没有解决“更广泛的胎儿检测”的临床使用，可能是因为他们的胎儿筛查指南没有解决NIPS的一些扩展版本;然而，ACMG在2012年发布了胎儿WGS/WES临床使用指南，当时他们特别讨论了其诊断“可能患有遗传疾病的胎儿”的实用性（ACMG 2012）。人群筛查和胎儿适应症诊断检测之间的区别在这里是至关重要的，省略它们会模糊重要的伦理和实践考虑。
We were interested to read the current target article (Bayefsky and Berkman 2022), given our admiration for the senior author’s comprehensive coverage of these same topics a decade ago (Donley, Hull, and Berkman 2012). As leaders of current NIH grants on ethical issues in prenatal genetic testing who have, along with many colleagues, been concerned with its transformation and expansion for more than a decade, we were surprised to hear that the field of bioethics has “deferred” discussion of these ethical, legal, and social complexities. We were equally surprised to hear the authors predict clinical use of expanded panels for prenatal genetic testing in the “not-too-distant future.” Such panels, including fetal exome sequencing, are already widely available clinically. In contrast to the prescience of the 2012 article, the current attempt is alternately problematic and irrelevant. To begin, the authors’ proposal is marred by repeated overgeneralizations and outdated characterizations of the current state of prenatal care. Contrary to the authors’ claim, broad sequencing in the prenatal period is already available clinically, so the idea that clinical use of this technology is nascent or futuristic is uninformed. Even if the authors meant to imply that WGS/WES may become a screening test via expanded prenatal cell-free DNA (NIPS/NIPT), the Netherlands has been using a proprietary WGS approach to analyze NIPS samples for years. Furthermore, the target article exhibits considerable vagueness and slippage between these very different prenatal testing technologies and contexts. NIPS is a screening test with low predictive value for singlegene disorders and CNVs, whereas genome or exome sequencing from an amniotic sample has diagnosticlevel analytic utility—yet the authors make no distinctions between these. Similarly, the authors claim that ACMG, for example, has not addressed clinical usage of “broader fetal testing,” presumably because some expanded versions of NIPS are not addressed by their fetal screening guidelines; however, ACMG issued guidance for the clinical use of fetal WGS/WES in 2012, when they specifically discussed its utility for diagnosing a “fetus with a likely genetic disorder”(ACMG 2012). The distinction between population screening and diagnostic testing for fetal indications is critical here, and eliding them obscures important ethical and practical considerations.
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影响因子：
8.8
作者：
Pyeritz, Reed E.
通讯作者：
Pyeritz, Reed E.
影响因子：
1.9
作者：
Roberts, Dorothy E.
通讯作者：
Roberts, Dorothy E.
影响因子：
13.4
作者：
Bayefsky, Michelle J.;Berkman, Benjamin E.
通讯作者：
Berkman, Benjamin E.
影响因子：
8.8
作者：
Bernhardt, Barbara A.;Soucier, Danielle;Wapner, Ronald J.
通讯作者：
Wapner, Ronald J.
DOI：
10.1038/s41431-021-00962-2
发表时间：
2022-03
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Boardman FK;Clark CC
通讯作者：
Clark CC