中医表型组学 2.0:与数字医学的融合发展

Phenomics of traditional Chinese medicine 2.0: the integration with digital medicine

  • 摘要: 现代西方医学通常侧重于治疗特定症状或疾病,中医学则强调人体各个系统在外部环境下的相互联系,并采用整体方法来预防和治疗疾病。2008 年,表型组学作为一门新学科被首次引入中医学领域,它基于表型组学,研究在中医学理论和实践范围内人体临床表型组的综合动态变化规律。虽然中医表型组学 1.0 初步建立了以 “证候”(中医学对临床表型组的定义)为核心的临床表型组体系,但在数据标准化、机制阐释和精准干预方面仍存在瓶颈。在此,我们系统阐述了在 “中医表型组学 2.0” 框架下,数字医学与中医表型组学融合的理论基础、技术路径及未来挑战。该框架以人工智能、可穿戴设备、医疗数字孪生和多组学整合等数字医学技术为支撑,旨在构建 “证候-表型组-机制-干预” 的闭环系统,实现疾病诊疗的数字化、标准化和精准化。数字医学与中医表型组学的融合,不仅推动了中医学理论与实践的现代化和科学化转型,也为精准医学提供了新范式。在实践中,数字工具有助于多源临床数据的获取和标准化,而人工智能与大数据算法则助力揭示临床证候表型组与分子机制之间的关联,从而提高诊断、疗效评估和个性化干预的科学严谨性。尽管如此,挑战依然存在,包括数据质量与标准化问题、跨学科人才短缺以及伦理和法律规范不完善等。未来的发展需要建立国家数据共享平台、加强国际合作、培养跨学科专业人才,并完善伦理和法律框架。最终,这种方法旨在构建以表型组为核心的新型疾病识别与分类体系,实现中医学诊疗模式的传承、创新与现代化。

     

    Abstract: Modern western medicine typically focuses on treating specific symptoms or diseases, and traditional Chinese medicine (TCM) emphasizes the interconnections of the body’s various systems under external environment and takes a holistic approach to preventing and treating diseases. Phenomics was initially introduced to the field of TCM in 2008 as a new discipline that studies the laws of integrated and dynamic changes of human clinical phenomes under the scope of the theories and practices of TCM based on phenomics. While TCM Phenomics 1.0 has initially established a clinical phenomic system centered on Zhenghou (a TCM definition of clinical phenome), bottlenecks remain in data standardization, mechanistic interpretation, and precision intervention. Here, we systematically elaborates on the theoretical foundations, technical pathways, and future challenges of integrating digital medicine with TCM phenomics under the framework of “TCM phenomics 2.0”, which is supported by digital medicine technologies such as artificial intelligence, wearable devices, medical digital twins, and multi-omics integration. This framework aims to construct a closed-loop system of “Zhenghou–Phenome–Mechanism–Intervention” and to enable the digitization, standardization, and precision of disease diagnosis and treatment. The integration of digital medicine and TCM phenomics not only promotes the modernization and scientific transformation of TCM theory and practice but also offers new paradigms for precision medicine. In practice, digital tools facilitate multi-source clinical data acquisition and standardization, while AI and big data algorithms help reveal the correlations between clinical Zhenghou phenomes and molecular mechanisms, thereby improving scientific rigor in diagnosis, efficacy evaluation, and personalized intervention. Nevertheless, challenges persist, including data quality and standardization issues, shortage of interdisciplinary talents, and insufficiency of ethical and legal regulations. Future development requires establishing national data-sharing platforms, strengthening international collaboration, fostering interdisciplinary professionals, and improving ethical and legal frameworks. Ultimately, this approach seeks to build a new disease identification and classification system centered on phenomes and to achieve the inheritance, innovation, and modernization of TCM diagnostic and therapeutic patterns.

     

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