Interpreting Genetic Testing

Join us with Dr. Richard Boles as we learn more about how to interpret genetic test results. The landscape today for a mitochondrial disease diagnosis is rapidly changing and now includes some genetic testing for most patients. However, many families are confused even further by the results. What is an VUS? What do the specific mutations mean? What does 30% depletion mean? Learn the nuts and bolts of interpreting today's genetic tests from Dr. Boles in this informative discussion. About the Speaker Dr. Boles completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. He is board certified in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics. His current positions include Associate Professor of Pediatrics at the Keck School of Medicine at USC, attending physician in Medical Genetics and General Pediatrics at Childrens Hospital Los Angeles, and Medical Director of Courtagen Life Sciences. Dr. Boles practices the "bedside to bench to bedside" model of a physician-scientist, combining an active clinical practice in metabolic and mitochondrial disorders with clinical diagnostics and basic research through Courtagen. Dr. Boles' clinical and research focus is on polymorphisms (common genetic changes) in the DNA that encodes for mitochondrial genes, and their effects on the development of common functional disorders. Examples include migraine, depression, cyclic vomiting syndrome, complex regional pain syndrome, autism and SIDS.