CLINICAL APPLICATIONS OF LABORATORY BIOMARKERS IN EARLY DISEASE DETECTION: AN UPDATED REVIEW

Abstract

The paradigm of modern medicine is shifting from reactive treatment to proactive and pre-emptive intervention, a transition fundamentally enabled by the discovery and clinical application of novel laboratory biomarkers. This narrative review synthesizes recent advancements from 2015 to 2026 in the utilization of circulating and genomic biomarkers for early disease detection across key clinical domains, including oncology, neurodegenerative disorders, cardiovascular diseases, and infectious diseases. We critically examine the evolution of liquid biopsies, comprising circulating tumor DNA, circulating tumor cells, and exosomes, which have revolutionized early cancer detection and minimal residual disease monitoring. In neurodegenerative diseases like Alzheimer’s, we explore the diagnostic accuracy of blood-based phospho-tau species and neurofilament light chain, which now approximate the performance of positron emission tomography and cerebrospinal fluid assays. For cardiovascular risk stratification, the integration of high-sensitivity cardiac troponins, natriuretic peptides, and novel inflammatory markers into polygenic risk scores is redefining primary prevention. The review also addresses the systemic challenges of clinical implementation, including the interpretive complexity of multi-marker panels, standardization across analytical platforms, and the ethical management of preclinical disease states. By highlighting the convergence of multi-omics and artificial intelligence, we outline a future where comprehensive biomarker profiling defines a new taxonomy of human disease, enabling truly personalized and anticipatory healthcare.