Minh-Ha Nguyen, Erica Gray, Chih-Ting Yang +5cs.AI
Most medical AI systems improve by scaling additional machinery: more fine-tuning data, more agents, and/or larger retrieval databases. In rare-disease diagnosis, however, such scaling can produce systems that are difficult to deploy, audit, and maintain. We asked whether state-of-the-art diagnostic performance could instead be achieved by extending the reasoning chain of a single AI agent: guiding it with a diagnostic policy, developed through human-AI collaboration and augmenting with freely available biomedical tools. We introduce LiteOdyssey, a lightweight rare-disease diagnostic framework that guides reasoning language model through a clinical genetics workflow. This framework was developed through Policy Iteration with Human Feedback (PIHF) and uses dynamic access to public biomedical tools. On two challenging benchmarks that provide only patient clinical features, LiteOdyssey achieved state-of-the-art performance, with an overall disease Recall@1 of 59.3% over the combined 1,243 cases of LIRICAL (n = 370) and the PhenoPacket Store (n = 873). Both benchmarks have a high proportion of ultra-rare disease (a prevalence below 1 in 1,000,000, with ultra-rare shares of approximately 45% and 52.8%, respectively). On the more difficult PhenoPacket subset, where causal diseases were not mapped to Orphanet in our rarity-mapping pipeline, LiteOdyssey achieved 60.7% Recall@1, compared with 10.7% for the same baseline model (GPT-5.4) without tools. This performance was achieved without fine-tuning, multi-agent ensembles, or a large case-retrieval database. Gains were also observed in the following: on cases never seen during development, on a private cohort of real-world rare disease patients, and on a smaller open-weights model. LiteOdyssey suggests a path toward rare-disease AI systems that are accurate, easier to deploy, and more transparent for physician review.
Large language model (LLM) agents are increasingly applied to network troubleshooting, but root-cause localization on public benchmarks remains well below practical deployment thresholds. We argue this is because existing agents do not encode the disciplined, layer-by-layer methodology that human network engineers use, and instead rely on free-form deliberation that conflates evidence acquisition with hypothesis commitment. We present SADE (Symptom-Aware Diagnostic Escalation), an agent that encodes the classical Cisco troubleshooting methodology as an explicit policy. SADE pairs a phase-gated diagnostic workflow, which separates evidence acquisition from hypothesis commitment, with a routed library of fault-family skills and high-yield diagnostic helpers. On a held-out 523 incident set of the public NIKA benchmark covering eleven unseen scenarios, SADE improves root-cause F1 by 37 percentage points over a ReAct + GPT-5 baseline; a model-controlled comparison against the same Claude Sonnet backend without the SADE policy attributes 22 of those points to the diagnostic policy alone, showing that the gain is not a side-effect of the model upgrade.