Next-Generation Sequencing in Haematological Diagnostics: Innovations and Clinical Applications

Next-generation sequencing (NGS) technologies have transformed haematological diagnostics, offering unparalleled speed, accuracy, and depth in analysing genetic variations linked to blood disorders and malignancies [1]. This review highlights the advancements and clinical applications of NGS, including its use in identifying clonal architecture, detecting minimal residual disease, and enabling personalised treatment strategies [2]. The integration of NGS into routine diagnostics has allowed for the precise identification of driver mutations, inherited blood disorders, and pharmacogenomic insights. Despite challenges such as data interpretation, assay validation, and accessibility, NGS remains a pivotal innovation in molecular diagnostics. Emerging technologies, including single-cell sequencing [3] and AI integration, promise to further revolutionise the field, ensuring that genomic insights translate into improved patient outcomes. This work underscores NGS's transformative impact on haematology, from early disease detection to the realisation of precision medicine [4].