Research to be presented at the 57th American Society of Hematology (ASH) Annual Meeting and Exposition reveals genetic variants that are associated with disease severity and treatment-related complications in children with blood diseases.
Recent technological advances in genome sequencing have allowed researchers to discover small DNA alterations that are associated with particular clinical outcomes or characteristics of disease. As sensitive tools become more widely accessible, investigators are increasingly able to identify genomic variations that may lead to more personalized therapies aimed at correcting genetic mutations or preventing complications in specific high-risk populations.
As treatments that target disease-specific molecular abnormalities have already drastically improved outcomes for some patients with blood diseases, researchers continue to uncover genetic clues that shed light on risk of relapse, potential treatment-related complications, and the likelihood of recovery.
Two studies present new insights on genetic mutations in children with acute lymphocytic leukemia (ALL) that indicate higher risk for debilitating chemotherapy-associated bone damage. Another study examines the potential of using real-time genetic analysis to personalize chemotherapy regimens for children with B-cell lymphocytic leukemia (B-ALL). Finally, researchers have discovered genetic variants that may be associated with the development of autoimmune bleeding disorders.
“We all have thousands of small variants in our genomes, some of which may predispose an individual to greater toxicity to a particular drug or alter the response to a specific treatment. Identification of these genetic variations using DNA sequencing provides a powerful and increasingly accessible tool to help predict which patients may be at risk for adverse treatment-related outcomes,” said Wendy Stock, MD, Professor of Medicine in Hematology/Oncology and Director of the Leukemia Program at University of Chicago. “The exciting research presented today provides new information on specific genetic risk factors that could lead to more personalized therapeutic approaches to improve outcomes for children with devastating diseases.”