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查胚胎是否存在多基因疾病风险:对流行病学,临床和伦理方面的考虑进行了审查
Antonio Capalbo1,2, Guido de Wert3, Heidi Mertes4,5
1Juno Genetics, Department of Reproductive Genetics, Rome, Italy.
Human reproduction update
|May 28, 2024
概括
多基因胚胎查 (PES) 允许评估试管婴儿胚胎对癌症和糖尿病等疾病的风险. 虽然它提供了潜在的风险降低,但它存在道德问题和实际限制,需要在临床使用之前进行进一步的研究.
科学领域:
- 生殖医学和遗传学
- 基因组查技术 基因组查技术
- 生物伦理与公共卫生政策
背景情况:
- 植入前遗传测试 (PGT) 从单基因疾病发展到全基因组基因型化.
- 多基因胚胎查 (PES) 现在可以评估试管婴儿对复杂多基因疾病的胚胎风险.
- 在重要的伦理和科学辩论中,PES正在临床实践中出现.
研究的目的:
- 为生殖专家提供PES的教育背景.
- 批判性地审查支持和反对PES的论点,包括患者,临床医生和公众的态度.
- 分析不同患者群体的益处和危害,并向医疗保健专业人员和决策者提供信息.
主要方法:
- 使用关键词"多基因胚胎查"",多基因植入前"和"PGT-P"对PubMed索引文章 (2003-2024) 的系统文献搜索.
- 包括主要的研究论文,重点关注PES的医疗状况.
- 包括相关的,非搜索识别的论文.
主要成果:
- 理论上的好处:降低后代一生的多基因疾病风险.
- 潜在的危害:未指定的试管婴儿,成功率降低,患者困惑,胚胎浪费,"设计婴儿",遗传决定性,不平等的获取和非欧洲祖先的低效用.
- 态度:美国试管婴儿患者和公众表现出积极的接待;医疗保健专业人员谨慎,质疑临床效用和咨询的充分性.
结论:
- PES的潜在好处和危害需要进一步调查,特别是关于实际限制的问题.
- 仅在研究环境中提供PES,因为不必要的试管婴儿和胚胎浪费等风险.
- 改善公众/患者教育和遗传咨询,以弥合专业人士与公众之间的态度差距.
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