The role of molecular genetic analysis within the diagnostic haemato-oncology laboratory

The identification of the molecular genetic basis to many haematological malignancies along with the increased use of molecularly targeted therapy has heralded an increasing role for molecular genetic-based techniques. Demonstration of acquired changes such as the JAK2 V617F mutation within myeloproliferative neoplasms has quickly moved from a research setting to the diagnostic laboratory. Disease-specific genetic markers, such as the BCR-ABL1 fusion gene in chronic myeloid leukaemia, enable sensitive molecular genetic methods to be applied for the detection and quantification of low-level residual disease, allowing early identification of relapse. Consequently, molecular genetics now plays a crucial role in diagnosis, the identification of prognostic markers and monitoring of haematological malignancies. The development of high-throughput whole-genome approaches offers the potential to rapidly screen newly diagnosed patients for all disease-associated molecular genetic changes.