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精准医学与人工智能:概述及其与生殖医学的相关性。

Precision medicine and artificial intelligence: overview and relevance to reproductive medicine.

机构信息

Caryl and Israel Englander Institute for Precision Medicine, Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York.

Caryl and Israel Englander Institute for Precision Medicine, Institute for Computational Biomedicine, Weill Cornell Medicine, New York, New York.

出版信息

Fertil Steril. 2020 Nov;114(5):908-913. doi: 10.1016/j.fertnstert.2020.09.156.

Abstract

Traditionally, new treatments have been developed for the population at large. Recently, large-scale genomic sequencing analyses have revealed tremendous genetic diversity between individuals. In diseases driven by genetic events such as cancer, genomic sequencing can unravel all the mutations that drive individual tumors. The ability to capture the genetic makeup of individual patients has led to the concept of precision medicine, a modern, technology-driven form of personalized medicine. Precision medicine matches each individual to the best treatment in a way that is tailored to his or her genetic uniqueness. To further personalize medicine, precision medicine increasingly incorporates and integrates data beyond genomics, such as epigenomics and metabolomics, as well as imaging. Increasingly, the robust use and integration of these modalities in precision medicine require the use of artificial intelligence and machine learning. This modern view of precision medicine, adopted early in certain areas of medicine such as cancer, has started to impact the field of reproductive medicine. Here we review the concepts and history of precision medicine and artificial intelligence, highlight their growing impact on reproductive medicine, and outline some of the challenges and limitations that these new fields have encountered in medicine.

摘要

传统上,新的治疗方法是针对整个人群开发的。最近,大规模的基因组测序分析揭示了个体之间巨大的遗传多样性。在由遗传事件驱动的疾病中,如癌症,基因组测序可以揭示驱动个体肿瘤的所有突变。捕获个体患者遗传构成的能力导致了精准医学的概念,这是一种现代的、由技术驱动的个性化医疗形式。精准医学以一种针对其遗传独特性量身定制的方式将每个个体与最佳治疗方法相匹配。为了进一步实现个体化医疗,精准医学越来越多地将基因组学以外的数据,如表观基因组学和代谢组学以及影像学纳入并整合。在精准医学中越来越多地使用和整合这些模式,需要使用人工智能和机器学习。这种对精准医学的现代观点,在癌症等某些医学领域已经被早期采用,开始影响生殖医学领域。在这里,我们回顾了精准医学和人工智能的概念和历史,强调了它们对生殖医学的日益增长的影响,并概述了这些新领域在医学中遇到的一些挑战和局限性。

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