arXiv:2506.04515q-bio.QMcs.AI2025-06被引 3

将多元医学数据统一映射到潜在空间,实现个性化诊疗的几何化建模。

The Latent Space Hypothesis: Toward Universal Medical Representation Learning

  • 用统一潜在流形表示不同医学数据,如同物体投影的阴影
  • 健康状态为点,疾病进展为轨迹,治疗为定向向量
  • 适合关注精准医疗与个体化治疗的研究者

医学数据涵盖基因序列、眼底照片、结构化检验结果及非结构化临床记录。尽管表现形式各异,这些数据往往反映同一生理状态的共性信息。潜在空间假说将每种观察视为一个统一、分层组织的流形投影,类似三维物体投射出的不同影子。在该学习到的几何表示中,个体健康状态对应一个点,疾病进展形成轨迹,治疗干预表现为定向向量。在共享空间中解读异质证据,为帕金森病或克罗恩病等传统命名疾病提供了重新审视的范式——这些疾病常掩盖多种病理机制,且影响范围远超以往认知。通过揭示亚轨迹和患者特异性变化方向,该框架为个性化诊断、纵向监测与精准治疗提供了量化依据,推动临床实践从依赖可能误导的标签转向追踪个体独特轨迹。仍面临偏见放大、罕见病数据稀缺、隐私保护及相关性与因果性区分等挑战,但具备感知规模的编码器、基于长期数据流的持续学习,以及基于扰动的验证方法,为突破提供了可行路径。

原文摘要 · Abstract (English)

Medical data range from genomic sequences and retinal photographs to structured laboratory results and unstructured clinical narratives. Although these modalities appear disparate, many encode convergent information about a single underlying physiological state. The Latent Space Hypothesis frames each observation as a projection of a unified, hierarchically organized manifold -- much like shadows cast by the same three-dimensional object. Within this learned geometric representation, an individual's health status occupies a point, disease progression traces a trajectory, and therapeutic intervention corresponds to a directed vector. Interpreting heterogeneous evidence in a shared space provides a principled way to re-examine eponymous conditions -- such as Parkinson's or Crohn's -- that often mask multiple pathophysiological entities and involve broader anatomical domains than once believed. By revealing sub-trajectories and patient-specific directions of change, the framework supplies a quantitative rationale for personalised diagnosis, longitudinal monitoring, and tailored treatment, moving clinical practice away from grouping by potentially misleading labels toward navigation of each person's unique trajectory. Challenges remain -- bias amplification, data scarcity for rare disorders, privacy, and the correlation-causation divide -- but scale-aware encoders, continual learning on longitudinal data streams, and perturbation-based validation offer plausible paths forward.

医学表征潜在空间个性化医疗多模态学习

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