Artificial Intelligence and Machine Learning in the Diagnosis and Prognosis of Diseases Through Breath Analysis: A Scoping Review

Breath analysis is a non-invasive diagnostic method that offers insights into both physiological and pathological conditions. Exhaled breath contains volatile organic compounds, which act as biomarkers for disease detection, allowing for the monitoring of treatments and the tailoring of medicine to individuals. Recent advancements in chemical sensing, mass spectrometry, and spectroscopy have improved the ability to identify these biomarkers; however, traditional statistical approaches often struggle to handle the complexities of breath data. Artificial intelligence (AI) and machine learning (ML) have revolutionized breath analysis by uncovering intricate patterns among volatile breath markers, enhancing diagnostic precision, and facilitating real-time disease identification. Despite significant progress, challenges remain, including issues with data standardization, model interpretability, and the necessity for extensive and varied datasets. This study reviews the applications of ML in analyzing breath volatile organic compounds, highlighting methodological shortcomings and obstacles to clinical validation. A thorough literature review was performed using the PubMed and Scopus databases, which included studies that focused specifically on the role of machine learning in disease diagnosis and incidence prediction via breath analysis. Among the 524 articles reviewed, 97 satisfied the specified inclusion criteria. The selected studies applied ML techniques, fell within the scope of this review, and emphasize the potential of ML models for non-invasive diagnostics. The findings indicate that traditional ML methods dominate, while ensemble methods are on the rise, and deep learning (DL) techniques (especially CNNs and LSTMs) are increasingly used for classifying respiratory diseases. Techniques for feature selection (such as PCA and ML-based methods) were frequently implemented, though challenges related to explainability and data standardization persist. Future studies should focus on enhancing model transparency and developing methods to further integrate AI into the clinical setting to facilitate early disease detection and advance precision medicine.