Phenomic Studies on Diseases:Potential and Challenges  

作　　者：Weihai Ying 

机构地区：[1]Med‑X Research Institute and School of Biomedical Engineering,Shanghai Jiao Tong University,1954 Huashan Road,Shanghai 200030,China [2]Collaborative Innovation Center for Genetics and Development,Shanghai 200043,China

出　　处：《Phenomics》2023年第3期285-299,共15页表型组学（英文）

基　　金：the financial support by two research grants from Shanghai Municipal Science and Technology Major Project(No.2017SHZDZX01)(to W.Y.).

摘　　要：The rapid development of such research field as multi-omics and artificial intelligence(AI)has made it possible to acquire and analyze the multi-dimensional big data of human phenomes.Increasing evidence has indicated that phenomics can pro-vide a revolutionary strategy and approach for discovering new risk factors,diagnostic biomarkers and precision therapies of diseases,which holds profound advantages over conventional approaches for realizing precision medicine:first,the big data of patients'phenomes can provide remarkably richer information than that of the genomes;second,phenomic studies on diseases may expose the correlations among cross-scale and multi-dimensional phenomic parameters as well as the mecha-nisms underlying the correlations;and third,phenomics-based studies are big data-driven studies,which can significantly enhance the possibility and efficiency for generating novel discoveries.However,phenomic studies on human diseases are still in early developmental stage,which are facing multiple major challenges and tasks:first,there is significant deficiency in analytical and modeling approaches for analyzing the multi-dimensional data of human phenomes;second,it is crucial to establish universal standards for acquirement and management of phenomic data of patients;third,new methods and devices for acquirement of phenomic data of patients under clinical settings should be developed;fourth,it is of significance to establish the regulatory and ethical guidelines for phenomic studies on diseases;and fifth,it is important to develop effective international cooperation.It is expected that phenomic studies on diseases would profoundly and comprehensively enhance our capacity in prevention,diagnosis and treatment of diseases.

关 键 词：PHENOMICS DISEASES Big data Precision medicine DIAGNOSIS 

分 类 号：R45[医药卫生—治疗学]