Non-Invasive Biomarkers in the Era of Big Data and Machine Learning

Invasive diagnostic techniques, while offering critical insights into disease pathophysiology, are often limited by high costs, procedural risks, and patient discomfort. Non-invasive biomarkers represent a transformative alternative, providing diagnostic precision through accessible biological samples or physiological data, including blood, saliva, breath, and wearable health metrics. They encompass molecular and imaging approaches, revealing genetic, epigenetic, and metabolic alterations associated with disease states. Furthermore, advances in breathomics and gut microbiome profiling further expand their diagnostic scope. Even with their strengths in terms of safety, cost-effectiveness, and accessibility, non-invasive biomarkers face challenges in achieving monitoring sensitivity and specificity comparable to traditional clinical approaches. Computational advancements, particularly in artificial intelligence and machine learning, are addressing these limitations by uncovering complex patterns in multi-modal datasets, enhancing diagnostic accuracy and facilitating personalized medicine. The present review integrates recent innovations, examines their clinical applications, highlights their limitations and provides a concise overview of the evolving role of non-invasive biomarkers in precision diagnostics, positioning them as a compelling choice for large-scale healthcare applications.