Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis
Minh-Ha Nguyen, Chih-Ting Yang, Thomas A. Cassini, Fan Ma, Rizwan Hamid, Lisa A. Bastarache, Josh F. Peterson, Hua Xu, Lingyao Li, Siyuan Ma, Cathy Shyr
This paper evaluates the diagnostic accuracy of large language models for rare diseases through a systematic review and meta-analysis, finding substantial variation in performance across benchmarks and high risk of bias in all studies.
npj Digital Medicine · Aug 12, 2026Peer-reviewedGenetic & Genomic Medicine