Genetic and Epigenetic Profiling in Personalized Medicine: Advances in Treatment of Acute Myeloid Leukemia

Abstract

Medicine was always aspired to be personalized, directed to each patient as a unique case. In our time, advancement of biomedical sciences and computational and other technologies has provided solid foundation for personalized medicine. Personalized medicine, also called genome-based medicine and precision medicine, uses the knowledge of genomic and epigenomic basis of the disease to individualize treatment for each patient. Hematological malignancies and especially acute myeloid leukemia are the best examples of implementation of personalized medicine in clinical practice. Acute myeloid leukemia (AML) is a heterogeneous group of malignant diseases of hematopoietic progenitor cells, characterized by different molecular genetic and epigenetic abnormalities. It is the most common type of acute leukemia in adults, and the second most common in children. Until recently, the treatment of AML was based on standard cytotoxic chemotherapy, having resulted in the overall survival of only 30–40% in the majority of patients. Application of new high-throughput technologies has enabled better insight into genetic and epigenetic landscape of AML. The most important achievement of genome-based medicine is more precise classification of AML patients based on newly discovered molecular markers, and molecular–targeted therapy, tailored to genetic and epigenetic profile of a disease, leading to improved survival of the AML patients. Additionally, development of pharmacogenomic platforms, immunotherapies and cellular therapies has open new possibilities for personalized treatment of AML patients. There is no doubt that we are getting closer to full implementation of personalized medicine in hematological clinical practice.