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Molecular Diagnostics In Hematological Disorders: A Perspective

Molecular diagnostic testing in hematology has been available in some form for many decades. The molecular techniques play an indispensable role in both benign and malignant hematological disorders. These include the identification of genetic defects in hemoglobinopathies allowing the provision of early prenatal diagnosis, the assessment of genetic risk factors in thrombophilia, diagnosis, and characterization of leukemia, and many more. Molecular tools are necessary for correctly diagnosing and classifying hematological malignancies as per the WHO classification and also for risk stratification and management as various risk stratification models mandate the knowledge of molecular abnormalities.

The tremendous explosion of knowledge over the last two decades has improved our understanding of the molecular basis of diseases, disease biology, and behavior. The clinicians and patients now have access to huge amounts of information and have ushered in an era of highly personalized treatment approaches. Conventional molecular techniques like PCR and fluorescent in situ hybridization (FISH) are much more widely available. The ongoing research and knowledge has translated into newer laboratory assays of high complexity particularly microarray and next-generation sequencing (NGS)-based -omics technologies. Such clinical molecular diagnostic assays, now impact diagnosis, subclassification, minimal residual disease (MRD) monitoring, outcome prediction, and therapy selection.

These insights have translated into improved disease classification, clinical care, and novel therapeutic protocols. With the ever expanding list of molecular tests available, bridging the gap between the ever expanding knowledge gained from exhaustive research and translation into clinical practice remains challenging. In order to make the best use of improving technology and immense research it is extremely important to integrate the newer tests with the older well-established clinical and laboratory tools. In the process of making the molecular menu cost-effective and available to the masses it is important to channelize the resources toward developing indigenous protocols and laboratory menus.

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