Author: Denis Avetisyan
New research explores how conversational artificial intelligence, powered by large language models, is being developed to provide early and accurate medical diagnoses.

This review details an explainable AI system leveraging retrieval-augmented generation to achieve high diagnostic accuracy in conversational settings, surpassing traditional machine learning approaches.
Despite growing demand, current healthcare systems struggle with diagnostic inefficiencies and limited access, often hindering timely treatment. This research, ‘Towards Explainable Conversational AI for Early Diagnosis with Large Language Models’, introduces a novel diagnostic chatbot powered by a Large Language Model-achieving 90% accuracy and 100% Top-3 accuracy while offering transparent reasoning through explainable AI techniques. By leveraging conversational interaction and Retrieval-Augmented Generation, the system outperforms traditional machine learning models in identifying potential diagnoses. Could this approach pave the way for more accessible, interactive, and clinically relevant AI solutions in healthcare?
Beyond the Limits of Current Diagnosis
The timely and precise identification of disease is paramount to effective treatment, yet current diagnostic procedures frequently encounter obstacles when addressing intricate medical presentations. While advancements in medical technology have offered new tools, their interpretation often relies on subjective assessments, introducing potential for variability and delayed results. Complex cases, characterized by atypical symptoms or co-morbidities, pose a particular challenge, as they may not neatly fit established diagnostic criteria. This can lead to a protracted diagnostic journey – involving numerous tests and specialist consultations – ultimately impacting patient well-being and potentially diminishing therapeutic efficacy. Consequently, there is a growing need for innovative approaches that enhance diagnostic accuracy, reduce delays, and minimize the reliance on subjective interpretations, particularly for individuals navigating the complexities of multifaceted illnesses.
Conventional diagnostic procedures often present significant hurdles to timely and effective healthcare. The reliance on sequential testing, specialist consultations, and manual review of data contributes to substantial delays, escalating costs, and increased demands on healthcare systems. Furthermore, interpretations of diagnostic results – particularly in fields like radiology and pathology – inherently involve a degree of subjectivity, potentially leading to inter-observer variability and misdiagnosis. This ambiguity can necessitate further testing, prolonging the diagnostic odyssey and negatively impacting patient outcomes, from delayed treatment initiation to increased anxiety and diminished quality of life. The cumulative effect of these limitations underscores the urgent need for innovative diagnostic approaches that are both efficient and objective.
The exponential growth of medical literature presents a significant challenge to effective clinical practice. Each year, a vast quantity of new research papers, clinical trials, and meta-analyses are published, creating an information overload that exceeds a clinician’s capacity for comprehensive review. This constant influx makes it increasingly difficult to remain current with the latest advancements, potentially leading to reliance on outdated practices or a hesitancy to adopt novel, evidence-based treatments. Consequently, informed decision-making – the cornerstone of quality patient care – is compromised, as staying abreast of the ever-evolving medical landscape demands considerable time and resources that are often unavailable within standard clinical workflows. The sheer volume isn’t merely a matter of quantity; the complexity and nuanced interpretations required to translate research into practical application further exacerbate the issue, necessitating innovative approaches to knowledge synthesis and dissemination.

An Intelligent System for Differential Diagnosis
The LLM-Based Diagnostic System is a conversational artificial intelligence intended to aid in the identification of diseases at early stages and to facilitate differential diagnosis. This system functions by engaging users in a dialogue to gather information regarding symptoms, medical history, and other relevant patient data. The collected information is then processed to generate a list of potential diagnoses, ranked by probability, and presented to the clinician for review. The system is designed as a support tool and does not replace the expertise of qualified medical professionals; its purpose is to augment the diagnostic process by providing a readily accessible and continuously updated source of potential diagnoses based on current medical knowledge.
The LLM-Based Diagnostic System employs GPT-4o as its primary reasoning engine, leveraging its capacity for complex pattern recognition and natural language understanding. To mitigate the risk of generating inaccurate or hallucinated medical information, the system incorporates Retrieval-Augmented Generation (RAG). RAG functions by accessing and integrating information from a curated Medical Knowledge Base during the response generation process. This ensures that the LLM’s outputs are not solely based on its pre-trained parameters but are actively informed by validated medical data, thereby enhancing the reliability and factual accuracy of diagnostic suggestions.
Chain-of-Thought Prompting is a technique employed to improve the reasoning capabilities and explainability of the LLM within the diagnostic system. This method involves structuring prompts to explicitly request the LLM to articulate its reasoning steps before arriving at a diagnosis. By decomposing complex diagnostic problems into a series of intermediate steps-such as identifying relevant symptoms, considering potential conditions, and evaluating evidence-the LLM provides a traceable rationale for its conclusions. This transparency is crucial for clinicians, allowing them to assess the validity of the LLM’s reasoning, identify potential errors, and ultimately maintain clinical oversight and trust in the AI-assisted diagnostic process.

Evidence of Diagnostic Accuracy and Reliability
Diagnostic evaluations indicate the system achieves 100% Top-3 Accuracy, meaning the correct diagnosis appears within the system’s top three suggestions in all tested cases. Alongside this, the system demonstrates 88% Recall, signifying its ability to identify 88% of all actual positive cases within the patient data. These metrics were determined through rigorous testing against a defined dataset of patient symptoms and confirmed diagnoses, providing quantitative evidence of the system’s diagnostic capabilities.
The system’s Top-1 Accuracy of 0.9048 indicates that in 90.48% of evaluation cases, the most probable diagnosis suggested by the system was correct. This metric assesses the system’s ability to consistently identify the single most likely diagnosis from a range of possibilities, representing a high level of confidence in its primary diagnostic output. This performance suggests the system reliably prioritizes the correct diagnosis as its leading suggestion, which is crucial for clinical utility and minimizing potential diagnostic errors.
Symptom extraction is a foundational element of the diagnostic system, responsible for identifying and categorizing patient-reported symptoms from unstructured text input. This component utilizes Natural Language Processing (NLP) techniques to parse patient descriptions, normalize variations in terminology – such as synonyms or colloquialisms – and map them to a standardized symptom vocabulary. The extracted symptoms then serve as the primary input for the diagnostic engine, enabling it to assess potential conditions based on the patient’s reported experience. Accurate symptom extraction is critical for the overall system performance, as errors or omissions at this stage directly impact the reliability of subsequent diagnostic assessments.
The system’s diagnostic capabilities are quantified by an F1-Score of 0.861. This metric represents the harmonic mean of precision and recall, providing a balanced assessment of the system’s performance. Precision, calculated as the ratio of correctly identified positive cases to all predicted positive cases, indicates the system’s ability to avoid false positives. Recall, defined as the ratio of correctly identified positive cases to all actual positive cases, measures the system’s ability to avoid false negatives. An F1-Score of 0.861 indicates a strong equilibrium between these two factors, suggesting reliable diagnostic performance across a diverse range of cases.

Expanding System Capabilities and Clinical Impact
The system’s functionality is being significantly broadened through direct integration with Electronic Health Records (EHRs). This connection allows the system to access a patient’s complete medical history – including diagnoses, medications, allergies, lab results, and imaging reports – providing a far more nuanced and informed basis for analysis than would be possible with isolated data points. By leveraging the wealth of information contained within EHRs, the system can move beyond symptom checking to offer truly personalized and context-aware insights, ultimately improving the accuracy and relevance of its diagnostic suggestions and treatment recommendations. This integration represents a critical step towards realizing the full potential of AI in healthcare, enabling a more holistic and patient-centered approach to medical decision-making.
Addressing potential biases within the diagnostic process is paramount to equitable healthcare delivery. Sophisticated bias mitigation techniques are now integral to the system, actively working to identify and neutralize disparities in accuracy across diverse patient populations. These methods involve careful curation of training datasets, ensuring representation from varied demographic groups and clinical presentations. Furthermore, the system employs algorithmic fairness metrics – quantitative measures of disparity – to continuously monitor performance and recalibrate models when imbalances are detected. This proactive approach aims to prevent the perpetuation of existing healthcare inequalities, ensuring that diagnostic recommendations are consistently reliable and just, regardless of a patient’s background or characteristics.
To address the inherent risk of large language models generating inaccurate or fabricated information – often termed “hallucinations” – the system incorporates several control mechanisms. These strategies extend beyond simply training on verified medical datasets; they include techniques like retrieval-augmented generation, where the LLM grounds its responses in established knowledge sources during inference. Furthermore, the system employs confidence scoring, flagging outputs with low certainty for review, and utilizes constrained decoding to limit the generation of improbable or medically unsupported statements. This multi-faceted approach doesn’t eliminate the potential for errors entirely, but significantly minimizes the risk of disseminating false or misleading medical information, ensuring a higher degree of reliability for clinicians and patients alike.

Towards a More Intelligent and Accessible Diagnostic Future
The system’s future intelligence hinges on its capacity to personalize care through reinforcement learning. This approach moves beyond static programming, allowing the system to dynamically refine its interactions based on continuous feedback from clinical settings. By treating each patient interaction as a learning opportunity, the system can adjust its questioning strategies, information delivery, and even the phrasing of advice to maximize effectiveness for that individual. This isn’t simply about recognizing keywords; it’s about understanding the nuances of a patient’s responses – their hesitancies, their emotional cues, and their specific medical history – to offer increasingly relevant and supportive guidance. Ultimately, reinforcement learning promises a system that doesn’t just respond to patients, but actively learns with them, improving its performance over time and becoming a more valuable tool for healthcare professionals.
Recognizing that language barriers significantly impede equitable healthcare access, developers are actively integrating multilingual support into the system. This initiative extends beyond simple translation; it involves nuanced adaptation of medical terminology and conversational styles to resonate with diverse cultural contexts. The goal is to dismantle communication obstacles for patients who may not be fluent in dominant languages, thereby reducing disparities in diagnosis, treatment adherence, and overall health outcomes. Current efforts focus on incorporating multiple languages – starting with those representing the largest underserved populations – and ensuring linguistic accuracy through collaboration with medical professionals and native speakers. Ultimately, this expansion aims to create a truly inclusive healthcare tool, empowering individuals to proactively manage their well-being regardless of their linguistic background.
Initial assessments of the system’s conversational abilities currently rely on synthetic dialogues – carefully constructed, simulated conversations designed to test specific functionalities and identify potential flaws. While providing a controlled environment for early-stage development, researchers acknowledge the limitations of these artificial interactions in fully capturing the nuances of real patient communication. Consequently, a key future direction involves incorporating data from actual patient interactions, but only under stringent ethical guidelines ensuring patient privacy and data security. This transition will require robust anonymization techniques and adherence to relevant healthcare regulations, ultimately allowing for more realistic evaluations and the refinement of the system’s ability to provide truly empathetic and effective support.
The pursuit of diagnostic accuracy, as detailed in this research, benefits immensely from a focus on clarity rather than complexity. The system’s success hinges on its ability to provide explainable AI – a crucial step toward building trust and facilitating adoption in healthcare. This aligns with a principle articulated by John McCarthy: “Every intellectual movement starts with the rejection of some dogma.” The dogma here being the ‘black box’ approach to AI; this work actively rejects it, prioritizing transparency and offering a pathway toward truly intelligent and understandable conversational diagnostics. The retrieval-augmented generation method, by grounding responses in verifiable knowledge, achieves precisely this-a reduction of uncertainty through focused information, achieving simplicity without sacrificing efficacy.
What Remains to Be Seen
The demonstrated efficacy of Retrieval-Augmented Generation in aligning Large Language Models with diagnostic reasoning represents a step – not a destination. The illusion of understanding generated by these systems remains precisely that: an illusion. Future work must prioritize not merely diagnostic accuracy, but the rigorous quantification of confidence. A correct diagnosis delivered without an accompanying assessment of uncertainty offers little practical improvement over existing methods, and potentially introduces new risks through overreliance.
The current architecture, while achieving notable performance, tacitly accepts the inherent messiness of medical data. Simplification, however, is not the same as understanding. The next iteration must move beyond feature extraction and towards the construction of genuinely minimal representations – models that capture the essential structure of disease while discarding the superfluous noise. Beauty, after all, is lossless compression.
Finally, the question of scalability looms. A system demonstrably effective in a controlled research environment is, by definition, incomplete. The true test lies in deployment – in the messy, unpredictable reality of clinical practice. The art, as always, will be in recognizing what can be safely deleted without diminishing the value of the whole.
Original article: https://arxiv.org/pdf/2512.17559.pdf
Contact the author: https://www.linkedin.com/in/avetisyan/
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2025-12-22 11:19