The Clinical Utility of Droplet Digital Polymerase Chain Reaction (PCR): A Breakthrough for Cancer and Noninvasive Prenatal Genetic Disease Diagnosis

Recently, oncology practice has undergone a paradigm shift, emphasizing precision-driven and patient-centered treatment models. Droplet digital polymerase chain reaction (ddPCR) is considered a top-tier technique for detecting cancer-associated genetic changes due to its high precision and reliability. Today, ddPCR is widely used for absolute quantification of alleles, identification of rare mutations, assessment of copy number variations, evaluation of DNA methylation, and detection of gene rearrangements in diverse clinical samples. It has proven especially valuable in the analysis of archival tumor tissues, where degraded DNA and limited material often hinder traditional methods, offering objective and automated quantification even under challenging conditions. Additionally, new avenues are emerging that leverage other body fluids such as cerebrospinal fluid and urine, further expanding the potential of ddPCR-based molecular testing. It can also be considered a tool for noninvasive prenatal diagnosis and neonatal screening. This article provides a comprehensive overview of the current and evolving applications of ddPCR in oncologic molecular screening and pediatric-onset genetic disease research.