Bridging Stepwise Lab-Informed Pretraining and Knowledge-Guided Learning for Diagnostic Reasoning.

TitleBridging Stepwise Lab-Informed Pretraining and Knowledge-Guided Learning for Diagnostic Reasoning.
Publication TypeJournal Article
Year of Publication2026
AuthorsHu P, Lu C, Wang F, Ning Y
JournalIEEE J Biomed Health Inform
Volume30
Issue10
Pagination8404-8416
Date Published2026 Oct
ISSN2168-2208
KeywordsDiagnosis, Computer-Assisted, Electronic Health Records, Humans, Large Language Models, Machine Learning, Predictive Learning Models
Abstract

Despite the growing use of Electronic Health Records (EHR) for AI-assisted diagnosis prediction, most data-driven models struggle to incorporate clinically meaningful medical knowledge. They often rely on limited ontologies, lacking structured reasoning capabilities and comprehensive coverage. This raises an important research question: Will medical knowledge improve predictive models to support stepwise clinical reasoning as performed by human doctors? To address this problem, we propose DuaLK, a dual-expertise framework that combines two complementary sources of information. For external knowledge, we construct a Diagnosis Knowledge Graph (KG) that encodes both hierarchical and semantic relations enriched by large language models (LLM). To align with patient data, we further introduce a lab-informed proxy task that guides the model to follow a clinically consistent, stepwise reasoning process based on lab test signals. Experimental results on two public EHR datasets demonstrate that DuaLK consistently outperforms existing baselines across four clinical prediction tasks. These findings highlight the potential of combining structured medical knowledge with individual-level clinical signals to achieve more accurate and interpretable diagnostic predictions.

DOI10.1109/JBHI.2026.3670251
Alternate JournalIEEE J Biomed Health Inform
PubMed ID41779652
Grant List2047843 / / NSF /
2437621 / / NSF /
Division: 
Institute of Artificial Intelligence for Digital Health
Category: 
Faculty Publication