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多基因风险评分在胚胎植入前遗传学检测中的应用:一种未经证实、不道德的做法。

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice.

机构信息

Clinical Genetics Department, Guy's and St Thomas NHS Foundation Trust, London, UK.

Department of Medical Genetics, Medical University of Sofia, Sofia, Bulgaria.

出版信息

Eur J Hum Genet. 2022 May;30(5):493-495. doi: 10.1038/s41431-021-01000-x. Epub 2021 Dec 17.

Abstract

Polygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as being useful in selecting the embryos that carry the least risk of disease in later life. It appears that at least one child has been born after such a procedure. But the utility of a PRS in this respect is severely limited, and to date, no clinical research has been performed to assess its diagnostic effectiveness in embryos. Patients need to be properly informed on the limitations of this use of PRSs, and a societal debate, focused on what would be considered acceptable with regard to the selection of individual traits, should take place before any further implementation of the technique in this population.

摘要

一些私人检测公司向使用体外受精的父母推销胚胎多基因风险评分分析(PGT-P),称其可用于选择在以后的生活中患病风险最小的胚胎。似乎至少有一个孩子是通过这种程序出生的。但是,PRS 在这方面的效用受到严重限制,迄今为止,还没有进行任何临床研究来评估其在胚胎中的诊断效果。患者需要对PRS 这种用途的局限性有正确的了解,并且在该技术在该人群中进一步实施之前,应该进行一次社会辩论,重点是针对个体特征选择什么是可以接受的。

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