将健康社会决定因素与多器官数据结合,生成疾病发展模拟路径。
Marrying Generative Model of Healthcare Events with Digital Twin of Social Determinants of Health for Disease Reasoning

- 构建基于ICD编码的社会因素代理的扩散模型,连接传感器数据与医疗事件。
- 在英国生物银行数据上实现疾病轨迹生成,优于现有自回归和图像生成模型。
- 适合临床决策支持与个性化疾病预测研究者使用。
尽管影像特征和血浆生物标志物等传感器数据在生物医学研究与临床实践中扮演核心角色,现有疾病预测的生成模型仍主要依赖医院和登记数据中的事件级表示。鉴于人类疾病的多因素特性,缺乏对健康社会决定因素(SDoH)的显式建模,即使仅以ICD编码的代理形式(ICD-10中章节Z及V–Y),也限制了个性化疾病建模与临床决策支持的能力。为解决这一局限,我们提出一种生成模型,利用ICD编码的SDoH代理进行虚拟疾病推理建模。该模型采用条件潜在扩散框架,建立多器官传感器数据与分词化医疗事件之间的关联。具体而言,引入新型几何扩散模型刻画复杂数据表征(如脑网络,即区域间连通性编码为图)的时序演化,并行处理其他器官系统表格数据的扩散模型。最终,我们将生成模型与数字化的SDoH代理(命名为 extit{modelname}{})集成,用于未来疾病轨迹的模拟干预与推理。我们在包含44,834例脑影像、23,987例心脏、28,722例肝脏、32,155例肾脏影像,以及近50万条医疗史序列(年龄范围:25~89岁)的英国生物银行(UK Biobank, UKB)数据集上进行了广泛实验。结果表明,我们的 extit{modelname}{}在疾病轨迹生成任务中显著优于当前最先进的自回归人类疾病模型和影像特征生成基线。
原文摘要 · Abstract (English)
Despite the central role of sensor-derived measurements such as imaging traits and plasma biomarkers in biomedical research and clinical practice, existing generative models for disease prediction largely depend on event-level representations from hospital and registry data. Given the multi-factorial nature of human disease, the absence of explicit modeling of social determinants of health (SDoH), even in the limited form of ICD-coded proxies (chapters Z and V--Y in ICD-10), limits the capacity for personalized disease modeling and clinical decision support. To address this limitation, we propose a generative model with ICD-coded proxies of SDoH for \textit{in silico} modeling of disease reasoning, a conditioned latent diffusion framework that establishes the connection between multi-organ sensor data with tokenized healthcare events. Specifically, we introduce a novel geometric diffusion model to characterize the temporal evolution of complex data representation such as brain networks (region-to-region connectivity encoded in a graph), in parallel with diffusion models for tabular data from other organ systems. Together, we integrate the generative model with digitalized SDoH proxies (coined \modelname{}) for simulated intervention and reasoning of future disease trajectories. We conduct extensive experiments on the UK Biobank (UKB) dataset, which contains organ-specific imaging traits, including brain (44,834), heart (23,987), liver (28,722), and kidney (32,155), along with nearly 500k medical history sequences (age range: 25$\sim$89 years). Our \modelname{} achieves significant improvements over state-of-the-art human disease autoregressive models and imaging trait generative baselines.
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