Molecular Diagnostics and Next-Generation Sequencing in Bleeding Disorders

Abstract

Molecular diagnostics has become a cornerstone of modern clinical practice, enabling precise detection and characterisation of genetic and infectious diseases. Advances in molecular biology and nucleic acid analysis have transformed traditional diagnostics by allowing identification of disease-associated alterations at the DNA and RNA levels. Polymerase chain reaction (PCR)–based assays have significantly improved sensitivity and specificity in pathogen detection and genetic testing, while non-PCR–based techniques have expanded diagnostic capabilities in point-of-care and resource-limited settings. More recently, next-generation sequencing (NGS) has revolutionised molecular diagnostics by enabling high-throughput, parallel analysis of multiple genetic targets. NGS is valuable in infectious disease surveillance, metagenomic pathogen detection, and the molecular diagnosis of inherited disorders. In bleeding disorders, NGS has improved understanding of the genetic basis of haemophilia A, haemophilia B, and von Willebrand disease, supporting accurate diagnosis, carrier detection, and prenatal screening. Despite these advances, disparities in access to molecular diagnostics persist, especially in low- and middle-income countries, contributing to underdiagnosis and delayed care. This review summarises the evolution of molecular diagnostic technologies, highlights current NGS applications in infectious diseases and inherited bleeding disorders, and addresses challenges and opportunities for improving diagnostic equity. Integration of advanced molecular tools into clinical practice is essential to enhance accuracy, guide therapy, and improve patient outcomes worldwide.