药物基因组学中的人工智能和多组学:精准医学的新时代

Mike Zack MD, PhD, MPH, Danil N. Stupichev MSc, Alex J. Moore BSc, Ioan D. Slobodchikov MSc, David G. Sokolov MSc, Igor F. Trifonov MSc, Allan Gobbs MSc
{"title":"药物基因组学中的人工智能和多组学:精准医学的新时代","authors":"Mike Zack MD, PhD, MPH,&nbsp;Danil N. Stupichev MSc,&nbsp;Alex J. Moore BSc,&nbsp;Ioan D. Slobodchikov MSc,&nbsp;David G. Sokolov MSc,&nbsp;Igor F. Trifonov MSc,&nbsp;Allan Gobbs MSc","doi":"10.1016/j.mcpdig.2025.100246","DOIUrl":null,"url":null,"abstract":"<div><div>Pharmacogenomics is entering a transformative phase as high-throughput “omics” techniques become increasingly integrated with state-of-the-art artificial intelligence (AI) methods. Although early successes in single-gene pharmacogenetics reported clear clinical benefits, many drug response phenotypes are governed by intricate networks of genomic variants, epigenetic modifications, and metabolic pathways. Multi-omics approaches address this complexity by capturing genomic, transcriptomic, proteomic, and metabolomic data layers, offering a comprehensive view of patient-specific biology. Advanced AI models, including deep neural networks, graph neural networks, and representation learning techniques, further enhance this landscape by detecting hidden patterns, filling gaps in incomplete data sets, and enabling in silico simulations of treatment responses. Such capabilities not only improve predictive accuracy but also deepen mechanistic insights, revealing how gene–gene and gene–environment interactions shape therapeutic outcomes. At the same time, real-world data from diverse patient populations is broadening the evidence base, underscoring the importance of inclusive datasets and population-specific algorithms to reduce health disparities. Despite challenges related to data harmonization, interpretability, and regulatory oversight, the synergy between multi-omics integration and AI-driven analytics holds relevant promise for revolutionizing clinical decision-making. In this review, we highlighted key technological advances, discussed current limitations, and outlined future directions for translating multi-omics plus AI innovations into routine personalized medicine.</div></div>","PeriodicalId":74127,"journal":{"name":"Mayo Clinic Proceedings. Digital health","volume":"3 3","pages":"Article 100246"},"PeriodicalIF":0.0000,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Artificial Intelligence and Multi-Omics in Pharmacogenomics: A New Era of Precision Medicine\",\"authors\":\"Mike Zack MD, PhD, MPH,&nbsp;Danil N. Stupichev MSc,&nbsp;Alex J. Moore BSc,&nbsp;Ioan D. Slobodchikov MSc,&nbsp;David G. Sokolov MSc,&nbsp;Igor F. Trifonov MSc,&nbsp;Allan Gobbs MSc\",\"doi\":\"10.1016/j.mcpdig.2025.100246\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Pharmacogenomics is entering a transformative phase as high-throughput “omics” techniques become increasingly integrated with state-of-the-art artificial intelligence (AI) methods. Although early successes in single-gene pharmacogenetics reported clear clinical benefits, many drug response phenotypes are governed by intricate networks of genomic variants, epigenetic modifications, and metabolic pathways. Multi-omics approaches address this complexity by capturing genomic, transcriptomic, proteomic, and metabolomic data layers, offering a comprehensive view of patient-specific biology. Advanced AI models, including deep neural networks, graph neural networks, and representation learning techniques, further enhance this landscape by detecting hidden patterns, filling gaps in incomplete data sets, and enabling in silico simulations of treatment responses. Such capabilities not only improve predictive accuracy but also deepen mechanistic insights, revealing how gene–gene and gene–environment interactions shape therapeutic outcomes. At the same time, real-world data from diverse patient populations is broadening the evidence base, underscoring the importance of inclusive datasets and population-specific algorithms to reduce health disparities. Despite challenges related to data harmonization, interpretability, and regulatory oversight, the synergy between multi-omics integration and AI-driven analytics holds relevant promise for revolutionizing clinical decision-making. In this review, we highlighted key technological advances, discussed current limitations, and outlined future directions for translating multi-omics plus AI innovations into routine personalized medicine.</div></div>\",\"PeriodicalId\":74127,\"journal\":{\"name\":\"Mayo Clinic Proceedings. Digital health\",\"volume\":\"3 3\",\"pages\":\"Article 100246\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-06-26\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Mayo Clinic Proceedings. Digital health\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2949761225000537\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Mayo Clinic Proceedings. Digital health","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2949761225000537","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

随着高通量“组学”技术越来越多地与最先进的人工智能(AI)方法相结合,药物基因组学正在进入一个变革阶段。尽管单基因药物遗传学的早期成功报道了明确的临床益处,但许多药物反应表型是由基因组变异、表观遗传修饰和代谢途径的复杂网络控制的。多组学方法通过捕获基因组学、转录组学、蛋白质组学和代谢组学数据层来解决这种复杂性,提供了患者特异性生物学的全面视图。先进的人工智能模型,包括深度神经网络、图形神经网络和表示学习技术,通过检测隐藏模式、填补不完整数据集中的空白,以及实现对治疗反应的计算机模拟,进一步增强了这一景观。这种能力不仅提高了预测的准确性,而且还加深了对机制的了解,揭示了基因-基因和基因-环境相互作用如何影响治疗结果。与此同时,来自不同患者群体的真实数据正在扩大证据基础,强调了包容性数据集和针对人群的算法对于减少健康差距的重要性。尽管存在与数据协调、可解释性和监管监督相关的挑战,但多组学集成和人工智能驱动分析之间的协同作用为彻底改变临床决策带来了相关希望。在这篇综述中,我们强调了关键的技术进步,讨论了当前的局限性,并概述了将多组学和人工智能创新转化为常规个性化医疗的未来方向。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Artificial Intelligence and Multi-Omics in Pharmacogenomics: A New Era of Precision Medicine
Pharmacogenomics is entering a transformative phase as high-throughput “omics” techniques become increasingly integrated with state-of-the-art artificial intelligence (AI) methods. Although early successes in single-gene pharmacogenetics reported clear clinical benefits, many drug response phenotypes are governed by intricate networks of genomic variants, epigenetic modifications, and metabolic pathways. Multi-omics approaches address this complexity by capturing genomic, transcriptomic, proteomic, and metabolomic data layers, offering a comprehensive view of patient-specific biology. Advanced AI models, including deep neural networks, graph neural networks, and representation learning techniques, further enhance this landscape by detecting hidden patterns, filling gaps in incomplete data sets, and enabling in silico simulations of treatment responses. Such capabilities not only improve predictive accuracy but also deepen mechanistic insights, revealing how gene–gene and gene–environment interactions shape therapeutic outcomes. At the same time, real-world data from diverse patient populations is broadening the evidence base, underscoring the importance of inclusive datasets and population-specific algorithms to reduce health disparities. Despite challenges related to data harmonization, interpretability, and regulatory oversight, the synergy between multi-omics integration and AI-driven analytics holds relevant promise for revolutionizing clinical decision-making. In this review, we highlighted key technological advances, discussed current limitations, and outlined future directions for translating multi-omics plus AI innovations into routine personalized medicine.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Mayo Clinic Proceedings. Digital health
Mayo Clinic Proceedings. Digital health Medicine and Dentistry (General), Health Informatics, Public Health and Health Policy
自引率
0.00%
发文量
0
审稿时长
47 days
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信