Lazaros Konstantinos, Adam Styliani, Krokidis Marios G, Exarchos Themis, Vlamos Panagiotis, Vrahatis Aristidis G
Bioinformatics and Human Electrophysiology Laboratory, Department of Informatics, Ionian University, 49100 Corfu, Greece.
Sensors (Basel). 2025 Feb 25;25(5):1396. doi: 10.3390/s25051396.
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.
侵入性诊断技术虽然能为疾病病理生理学提供关键见解，但往往受到高成本、操作风险和患者不适的限制。非侵入性生物标志物是一种变革性的替代方法，通过血液、唾液、呼吸和可穿戴健康指标等易于获取的生物样本或生理数据提供诊断精度。它们包括分子和成像方法，揭示与疾病状态相关的基因、表观遗传和代谢改变。此外，呼吸组学和肠道微生物组分析的进展进一步扩大了它们的诊断范围。尽管非侵入性生物标志物在安全性、成本效益和可及性方面具有优势，但在实现与传统临床方法相当的监测敏感性和特异性方面仍面临挑战。计算技术的进步，特别是人工智能和机器学习，通过揭示多模态数据集中的复杂模式来解决这些限制，提高诊断准确性并促进个性化医疗。本综述整合了近期的创新成果，审视了它们的临床应用，突出了它们的局限性，并简要概述了非侵入性生物标志物在精准诊断中不断演变的作用，将它们定位为大规模医疗保健应用的有力选择。
