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Clinical Germline Genome Editing: When Will Good be Good Enough?
Perspectives in Biology and Medicine ( IF 1 ) Pub Date : 2020-01-01 , DOI: 10.1353/pbm.2020.0008
Helen C. O'Neill

Ensuring experimental outcomes are of the highest clinical caliber is crucial prior to the introduction of germline genome editing. However, if we are to police scientific progress using probability or the potential to go wrong, then we must account for the specious standards of human reproduction. With 15% of clinically recognized pregnancies estimated to end in spontaneous miscarriage within the first trimester, and 25% of all pregnancies ending in miscarriage, human reproduction has a high failure rate. These figures, coupled with the percentage of all births with congenital defects and the number of these who will die in the first year of life, paint two scenarios: one, that evolutionary checkpoints are cruel but critical, and two, that for the seemingly inevitable 3%, or 8 million babies born annually with congenital disorders, perhaps more must be done for prevention, when methods exist for prediction. Unifying progress in three coevolving technologies-assisted reproduction, genome editing, and genome sequencing-could produce revolutionary clinical changes in the harsh global statistics of hereditary disease. A historical perspective on the rocky foundations upon which IVF was built suggests that lessons should be learned from the misalignment of research and clinical practice due to funding and research restrictions. At present, it seems likely that history will repeat itself, and that progress in research will be hampered by hypocritical hesitation.

中文翻译:

临床种系基因组编辑:什么时候好才够好?

在引入种系基因组编辑之前,确保实验结果具有最高的临床水平是至关重要的。然而,如果我们要使用概率或出错的可能性来监督科学进步,那么我们必须考虑人类繁殖的似是而非的标准。据估计,临床认可的妊娠中有 15% 会在头三个月内以自然流产告终,而所有妊娠中有 25% 会以流产告终,因此人类生殖的失败率很高。这些数字,加上所有出生时有先天性缺陷的百分比以及出生后第一年死亡的人数,描绘了两种情况:第一,进化检查站是残酷但至关重要的,第二,对于看似不可避免的3%,即每年出生的 800 万婴儿患有先天性疾病,当存在预测方法时,也许必须做更多的预防工作。将三种共同进化的技术——辅助生殖、基因组编辑和基因组测序——的进步统一起来,可能会在严苛的全球遗传病统计数据中产生革命性的临床变化。对 IVF 建立的岩石基础的历史观点表明,应该从由于资金和研究限制导致的研究和临床实践的错位中吸取教训。目前看来,历史很​​可能会重演,研究的进展会因虚伪的犹豫而受阻。和基因组测序——可能会在严酷的遗传病全球统计数据中产生革命性的临床变化。对 IVF 建立的岩石基础的历史观点表明,应该从由于资金和研究限制导致的研究和临床实践的错位中吸取教训。目前看来,历史很​​可能会重演,研究的进展会因虚伪的犹豫而受阻。和基因组测序——可能会在严酷的遗传病全球统计数据中产生革命性的临床变化。对 IVF 建立的岩石基础的历史观点表明,应该从由于资金和研究限制导致的研究和临床实践的错位中吸取教训。目前看来,历史很​​可能会重演,研究的进展会因虚伪的犹豫而受阻。
更新日期:2020-01-01
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