Editor's Note: Marshall L. Summar, MD, is Chief of the Division of Genetics and Metabolism and the Margaret O'Malley Chair of Molecular Genetics at Children's National Health System in Washington, DC. He is an internationally recognized expert in translational studies with an emphasis on developing clinical applications based on molecular genetics research. In an interview for Medscape, he spoke with clinical geneticists Kimberly A. Chapman, MD, PhD, Assistant Professor of Pediatrics at the George Washington Medical School of Health, and Patroula Smpokou, MD, a genetics specialist at Children's National. Their discussion focused on the ways that genetics are helping to diagnose and treat patients with targeted therapies that had not been identified before.
Not Just Congenital Heart Defects
Marshall L. Summar, MD: I am here today with Dr. Kim Chapman and Dr. Patroula Smpokou, both of whom are board-certified clinical geneticists and experts in the field of cardiac genetics, particularly in pediatrics. We are finding genetics coming into every single field, whether it's cancer or gastrointestinal medicine, and genetics are starting to crop up in cardiology and pediatrics. What are the big areas of genetics in cardiology?
Kimberly A. Chapman, MD, PhD: When we think about genetics in cardiology, we usually think about congenital heart disease