Advancements in Molecular Diagnostics for Early Disease Detection

Abstract

The development of molecular diagnostics for personalized and evidence-based medicine has been a major driving force in medical research over recent decades. Due to technological advances in areas such as robotics, genetics, and bioinformatics, and thanks to reduced reagent costs, commercial tools for the detection of a myriad of diseases on the basis of thousands of genetic markers are now within our grasp. Coupled with the discovery of disease-specific biomarkers, they pave the way for non-invasive, early detection in a clinical diagnostic setting. Rapid advancements in microfluidics and digital plasmonics also play a role in the development of robust diagnostic instruments for rapid point-of-care diagnostic testing at the bedside. In this review, we aim to provide an overview of recent developments in the preclinical stages of molecular diagnosis that use blood-derived analytes such as circulating DNA, exosomes, and microRNAs or circulating DNA from other body fluids such as urine or cerebrospinal fluid. We also emphasize the importance and advantages of combining different types of markers to improve the accuracy of diagnostic tests.