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精准医学:通过弥合衰老、遗传学和全球多样性实现医疗保健个性化。

Precision Medicine: Personalizing Healthcare by Bridging Aging, Genetics, and Global Diversity.

作者信息

Edvardsson Maria, Heenkenda Menikae K

机构信息

Primary Health Care Center, 581 95 Linköping, Sweden.

Department of Biomedical and Clinical Sciences, Division of Clinical Chemistry and Pharmacology, Linköping University, 581 83 Linköping, Sweden.

出版信息

Healthcare (Basel). 2025 Jun 26;13(13):1529. doi: 10.3390/healthcare13131529.

Abstract

Precision medicine transforms healthcare by tailoring prevention, diagnosis, and treatment strategies to individual characteristics such as genetics, molecular profiles, environmental factors, and lifestyle. This approach has shown promise in improving treatment efficacy, minimizing adverse effects, and enhancing disease prevention across various conditions, including age-related illnesses, cancer, type 2 diabetes, cardiovascular disease, and rare genetic disorders. However, major challenges remain that limit the potential of precision medicine. A key limitation is the underrepresentation of diverse populations in genetic research, leading to disparities in treatment outcomes and the potential misinterpretation of genetic risks. Current clinical reference intervals often fail to reflect the biological changes associated with aging, increasing the risk of misdiagnosis or inappropriate treatment in older adults. Our model calls for a broader, more inclusive framework, one that incorporates not only individual variability but also population-level factors such as aging and genetic diversity. Emerging technologies in artificial intelligence (AI), digital health, and multi-omics can help support this expanded approach. Precision medicine must include underrepresented populations in research, develop age-specific clinical guidelines, and address socioeconomic barriers. Here, we provide a brief introduction to our model. By integrating aging and genetics, precision medicine can evolve into a truly global approach-one that promotes health equity, respects biological diversity, and improves outcomes for all populations.

摘要

精准医学通过根据个体特征(如遗传学、分子谱、环境因素和生活方式)定制预防、诊断和治疗策略来改变医疗保健。这种方法在提高治疗效果、最小化不良反应以及加强对各种疾病(包括与年龄相关的疾病、癌症、2型糖尿病、心血管疾病和罕见遗传疾病)的疾病预防方面已显示出前景。然而,仍然存在重大挑战限制了精准医学的潜力。一个关键限制是遗传研究中不同人群的代表性不足,导致治疗结果的差异以及对遗传风险的潜在误解。当前的临床参考区间往往未能反映与衰老相关的生物学变化,增加了老年人误诊或不适当治疗的风险。我们的模型需要一个更广泛、更具包容性的框架,一个不仅纳入个体变异性,还纳入诸如衰老和遗传多样性等人群水平因素的框架。人工智能(AI)、数字健康和多组学等新兴技术可以帮助支持这种扩展方法。精准医学必须在研究中纳入代表性不足的人群,制定针对特定年龄的临床指南,并消除社会经济障碍。在此,我们简要介绍我们的模型。通过整合衰老和遗传学,精准医学可以演变成一种真正的全球方法——一种促进健康公平、尊重生物多样性并改善所有人群治疗结果的方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6f4/12248950/cc7cffbe5d55/healthcare-13-01529-g001.jpg

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