Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.
Department of Medicine, Columbia University Irving Medical Center, New York, NY.
Diabetes Care. 2020 Jul;43(7):1617-1635. doi: 10.2337/dci20-0022.
The convergence of advances in medical science, human biology, data science, and technology has enabled the generation of new insights into the phenotype known as "diabetes." Increased knowledge of this condition has emerged from populations around the world, illuminating the differences in how diabetes presents, its variable prevalence, and how best practice in treatment varies between populations. In parallel, focus has been placed on the development of tools for the application of precision medicine to numerous conditions. This Consensus Report presents the American Diabetes Association (ADA) Precision Medicine in Diabetes Initiative in partnership with the European Association for the Study of Diabetes (EASD), including its mission, the current state of the field, and prospects for the future. Expert opinions are presented on areas of precision diagnostics and precision therapeutics (including prevention and treatment), and key barriers to and opportunities for implementation of precision diabetes medicine, with better care and outcomes around the globe, are highlighted. Cases where precision diagnosis is already feasible and effective (i.e., monogenic forms of diabetes) are presented, while the major hurdles to the global implementation of precision diagnosis of complex forms of diabetes are discussed. The situation is similar for precision therapeutics, in which the appropriate therapy will often change over time owing to the manner in which diabetes evolves within individual patients. This Consensus Report describes a foundation for precision diabetes medicine, while highlighting what remains to be done to realize its potential. This, combined with a subsequent, detailed evidence-based review (due 2022), will provide a roadmap for precision medicine in diabetes that helps improve the quality of life for all those with diabetes.
医学科学、人类生物学、数据科学和技术的进步已经使得对被称为“糖尿病”的表型产生新的见解成为可能。来自世界各地的人群的数据增加了对这种疾病的了解,揭示了糖尿病的表现、其不同的流行程度以及不同人群之间治疗最佳实践的差异。与此同时,人们也专注于开发工具,以将精准医学应用于众多疾病。本共识报告展示了美国糖尿病协会(ADA)与欧洲糖尿病研究协会(EASD)合作的精准医学糖尿病倡议,包括其使命、该领域的现状和未来展望。专家们就精准诊断和精准治疗(包括预防和治疗)领域的意见,以及精准糖尿病医学实施的关键障碍和机会进行了介绍,强调了在全球范围内改善护理和结果的重要性。报告中介绍了精准诊断已经可行和有效的案例(即单基因形式的糖尿病),同时也讨论了在全球范围内实施复杂形式糖尿病精准诊断的主要障碍。精准治疗的情况也是如此,由于糖尿病在个体患者中的演变方式,适当的治疗方法通常会随着时间的推移而改变。本共识报告描述了精准糖尿病医学的基础,同时强调了为实现其潜力仍需做哪些工作。这与随后(2022 年)的详细循证审查相结合,将为糖尿病精准医学提供路线图,帮助改善所有糖尿病患者的生活质量。