{"title":"糖尿病和肥胖症:利用异质性实现精准医疗","authors":"Paul W Franks, Jennifer L Sargent","doi":"10.1093/eurheartj/ehae746","DOIUrl":null,"url":null,"abstract":"The increasing prevalence of diabetes, obesity, and their cardiometabolic sequelae present major global health challenges and highlight shortfalls of current approaches to the prevention and treatment of these conditions. Representing the largest global burden of morbidity and mortality, the pathobiological processes underlying cardiometabolic diseases are in principle preventable and, even when disease is manifest, sometimes reversable. Nevertheless, with current clinical and public health strategies, goals of widespread prevention and remission remain largely aspirational. Application of precision medicine approaches that reduce errors and improve accuracy in medical and health recommendations has potential to accelerate progress towards these goals. Precision medicine must also maintain safety and ideally be cost-effective, as well as being compatible with an individual’s preferences, capabilities, and needs. Initial progress in precision medicine was made in the context of rare diseases, with much focus on pharmacogenetic studies, owing to the cause of these diseases often being attributable to highly penetrant single gene mutations. By contrast, most obesity and type 2 diabetes are heterogeneous in aetiology and clinical presentation, underpinned by complex interactions between genetic and non-genetic factors. The heterogeneity of these conditions can be leveraged for development of approaches for precision therapies. Adequate characterization of the heterogeneity in cardiometabolic disease necessitates diversity of and synthesis across data types and research methods, ideally culminating in precision trials and real-world application of precision medicine approaches. This State-of-the-Art Review provides an overview of the current state of the science of precision medicine, as well as outlining a roadmap for study designs that maximise opportunities and address challenges to clinical implementation of precision medicine approaches in obesity and diabetes.","PeriodicalId":11976,"journal":{"name":"European Heart Journal","volume":null,"pages":null},"PeriodicalIF":37.6000,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Diabetes and obesity: leveraging heterogeneity for precision medicine\",\"authors\":\"Paul W Franks, Jennifer L Sargent\",\"doi\":\"10.1093/eurheartj/ehae746\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The increasing prevalence of diabetes, obesity, and their cardiometabolic sequelae present major global health challenges and highlight shortfalls of current approaches to the prevention and treatment of these conditions. Representing the largest global burden of morbidity and mortality, the pathobiological processes underlying cardiometabolic diseases are in principle preventable and, even when disease is manifest, sometimes reversable. Nevertheless, with current clinical and public health strategies, goals of widespread prevention and remission remain largely aspirational. Application of precision medicine approaches that reduce errors and improve accuracy in medical and health recommendations has potential to accelerate progress towards these goals. Precision medicine must also maintain safety and ideally be cost-effective, as well as being compatible with an individual’s preferences, capabilities, and needs. Initial progress in precision medicine was made in the context of rare diseases, with much focus on pharmacogenetic studies, owing to the cause of these diseases often being attributable to highly penetrant single gene mutations. By contrast, most obesity and type 2 diabetes are heterogeneous in aetiology and clinical presentation, underpinned by complex interactions between genetic and non-genetic factors. The heterogeneity of these conditions can be leveraged for development of approaches for precision therapies. Adequate characterization of the heterogeneity in cardiometabolic disease necessitates diversity of and synthesis across data types and research methods, ideally culminating in precision trials and real-world application of precision medicine approaches. This State-of-the-Art Review provides an overview of the current state of the science of precision medicine, as well as outlining a roadmap for study designs that maximise opportunities and address challenges to clinical implementation of precision medicine approaches in obesity and diabetes.\",\"PeriodicalId\":11976,\"journal\":{\"name\":\"European Heart Journal\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":37.6000,\"publicationDate\":\"2024-11-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Heart Journal\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/eurheartj/ehae746\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Heart Journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/eurheartj/ehae746","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
Diabetes and obesity: leveraging heterogeneity for precision medicine
The increasing prevalence of diabetes, obesity, and their cardiometabolic sequelae present major global health challenges and highlight shortfalls of current approaches to the prevention and treatment of these conditions. Representing the largest global burden of morbidity and mortality, the pathobiological processes underlying cardiometabolic diseases are in principle preventable and, even when disease is manifest, sometimes reversable. Nevertheless, with current clinical and public health strategies, goals of widespread prevention and remission remain largely aspirational. Application of precision medicine approaches that reduce errors and improve accuracy in medical and health recommendations has potential to accelerate progress towards these goals. Precision medicine must also maintain safety and ideally be cost-effective, as well as being compatible with an individual’s preferences, capabilities, and needs. Initial progress in precision medicine was made in the context of rare diseases, with much focus on pharmacogenetic studies, owing to the cause of these diseases often being attributable to highly penetrant single gene mutations. By contrast, most obesity and type 2 diabetes are heterogeneous in aetiology and clinical presentation, underpinned by complex interactions between genetic and non-genetic factors. The heterogeneity of these conditions can be leveraged for development of approaches for precision therapies. Adequate characterization of the heterogeneity in cardiometabolic disease necessitates diversity of and synthesis across data types and research methods, ideally culminating in precision trials and real-world application of precision medicine approaches. This State-of-the-Art Review provides an overview of the current state of the science of precision medicine, as well as outlining a roadmap for study designs that maximise opportunities and address challenges to clinical implementation of precision medicine approaches in obesity and diabetes.
期刊介绍:
The European Heart Journal is a renowned international journal that focuses on cardiovascular medicine. It is published weekly and is the official journal of the European Society of Cardiology. This peer-reviewed journal is committed to publishing high-quality clinical and scientific material pertaining to all aspects of cardiovascular medicine. It covers a diverse range of topics including research findings, technical evaluations, and reviews. Moreover, the journal serves as a platform for the exchange of information and discussions on various aspects of cardiovascular medicine, including educational matters.
In addition to original papers on cardiovascular medicine and surgery, the European Heart Journal also presents reviews, clinical perspectives, ESC Guidelines, and editorial articles that highlight recent advancements in cardiology. Additionally, the journal actively encourages readers to share their thoughts and opinions through correspondence.