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定义指导无创产前筛查(NIPS)扩大应用的伦理标准:来自植入前基因检测的严重性教训。

Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing.

作者信息

Gallois Hortense, Ravitsky Vardit, Roy Marie-Christine, Laberge Anne-Marie

机构信息

Simon Fraser University, Vancouver, BC, Canada.

Bioethics, Department of Social and Preventive Medicine, School of Public Health, Université de Montréal, Montreal, QC, Canada.

出版信息

Eur J Hum Genet. 2025 Mar;33(2):167-175. doi: 10.1038/s41431-024-01714-8. Epub 2024 Oct 26.

DOI:10.1038/s41431-024-01714-8
PMID:39462080
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11840150/
Abstract

We hypothesized that ethical criteria that guide the use of preimplantation genetic testing (PGT) could be used to inform policies about expanded use of non-invasive prenatal screening (NIPS). We used a systematic review of reasons approach to assess ethical criteria used to justify using (or not using) PGT for genetic conditions. Out of 1135 identified documents, we retained and analyzed 216 relevant documents. Results show a clear distinction in acceptability of PGT for medical vs. non-medical conditions. Criteria to decide on use of PGT for medical conditions are largely based on their severity, but there is no clear definition of "severity". Instead, characteristics of the condition that relate to severity are used as sub-criteria to assess severity. We found that characteristics that are used as sub-criteria for assessing severity include monogenic etiology, high penetrance, absence of treatment, early age of onset, shortened lifespan, and reduced quality of life. Consensus about the use of PGT is highest for conditions that meet most of these criteria. There is no consensus around the acceptability of using PGT to detect non-medical conditions. We propose that the same severity criteria could be used by policymakers to assess the acceptability of using other genetic tests in screening and practice, including for the use of NIPS for additional conditions as indications broaden.

摘要

我们假设,指导植入前基因检测(PGT)使用的伦理标准可用于为扩大非侵入性产前筛查(NIPS)的使用政策提供参考。我们采用系统的理由回顾方法,来评估用于证明使用(或不使用)PGT诊断遗传疾病的伦理标准。在1135份已识别的文件中,我们保留并分析了216份相关文件。结果显示,PGT用于医疗状况与非医疗状况的可接受性存在明显差异。决定将PGT用于医疗状况的标准主要基于疾病的严重程度,但对于“严重程度”并没有明确的定义。相反,与严重程度相关的疾病特征被用作评估严重程度的子标准。我们发现,用作评估严重程度子标准的特征包括单基因病因、高外显率、无治疗方法、发病年龄早、寿命缩短和生活质量下降。对于符合大多数这些标准的疾病,使用PGT的共识最高。对于使用PGT检测非医疗状况的可接受性,目前尚无共识。我们建议政策制定者可以使用相同的严重程度标准,来评估在筛查和实践中使用其他基因检测的可接受性,包括随着适应症的扩大,将NIPS用于更多状况时的可接受性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4972/11840150/d28225adeda8/41431_2024_1714_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4972/11840150/d28225adeda8/41431_2024_1714_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4972/11840150/d28225adeda8/41431_2024_1714_Fig1_HTML.jpg

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本文引用的文献

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Preimplantation genetic testing in the current era, a review.当前时代的植入前基因检测,一篇综述。
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PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders.
胚胎植入前遗传学检测:非侵入性产前检测非整倍体、拷贝数变异和单基因疾病。
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Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening.模糊的界限。对接受胚胎植入前遗传学检测的夫妇进行的关于全面染色体筛查的访谈。
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