Knowledge-Guided Explainable Recommendation Tool for Cancer Risk Prediction Models Using Retrieval-Augmented Large...

Cancer risk prediction models are vital for precision prevention, enabling individualized assessment of cancer susceptibility based on genetic, clinical, environmental, and lifestyle factors. However, the practical use of these models is hindered by fragmented resources, heterogeneous reporting, and the absence of transparent, structured systems for systematic discovery and comparison.

This study aimed to develop a retrieval-augmented, knowledge-guided system that provides accurate recommendations for cancer risk prediction models.

We developed CanRisk-RAG, a recommendation platform underpinned by a precisely constructed knowledge base comprising more than 800 peer-reviewed cancer risk prediction models spanning diverse cancer types, modeling approaches, and predictive variables. The system integrates (1) large language model (LLM)-based semantic tag extraction, (2) embedding vectorization of structured metadata and abstracts, (3) a multifactor ranking algorithm combining semantic similarity with multiple quality indicators, and (4) LLM-generated literature summarization to support rapid user interpretation. Performance was evaluated across 4 types of representative queries. Eight domain experts independently assessed retrieval quality. CanRisk-RAG was benchmarked against PubMed, ChatGPT-4o, ScholarAI, and Gemini 1.5 Flash.

On the independent validation set, CanRisk-RAG consistently outperformed all 4 baseline applications, achieving the highest overall relevance (8.30 [SD 0.59]) and reliability (7.62 [SD 0.76]) scores on a 10-point scale (P<.05). It also demonstrated high authenticity, data completeness, and consistency. Baseline applications frequently returned incomplete, inconsistent, or fabricated results, especially for complex, multifactorial queries, whereas CanRisk-RAG delivered accurate and structured recommendations grounded in validated evidence.

CanRisk-RAG presents a transparent, domain-specific, and semantically enriched framework for discovering cancer risk prediction models, addressing several limitations of existing keyword-based search tools and general-purpose LLMs. By integrating structured knowledge, multifactor ranking, and LLM-based reasoning, the system aims to improve the precision, reproducibility, and usability of model selection in cancer risk prediction. While our evaluation demonstrates encouraging performance compared with baseline systems, further validation in broader clinical contexts and real-world applications is warranted. The framework's general design may also be adaptable to other clinical model domains, providing a potential foundation for advancing evidence-based model discovery in precision medicine.