Research into the genetic underpinnings of heart disease has developed to the point that it’s now clear that many cardiovascular patients — and their families — will benefit from the tests, said Peng-Sheng Chen, M.D., Medtronic Zipes Chair in Cardiology and director of the Krannert Institute of Cardiology at the IU School of Medicine.
Dr. Chen cited a rare but potentially fatal disease called long QT syndrome, named after the electrocardiogram pattern that identifies patients at risk of developing abnormal heartbeat rhythms. Researchers have identified 13 genes associated with 75 percent of the cases of long QT syndrome, and tests now will enable physicians to determine which of the genes has the mutation responsible for an individual patient’s case.
“Not only will the tests determine which gene is responsible, we now are able to conduct tests of a patient’s relatives to determine which family members are at risk and in need of medical attention, and which are not,” said Dr. Chen, chief of the Division of Cardiology, Department of Medicine.
“That is one of the most important outcomes,” he said.
Officials plan to offer genetic testing and counseling at all Indiana University Health sites.
The Strategic Research Initiative is a $150 million collaboration of the IU School of Medicine and IU Health focusing on research in cardiovascular disease, cancer and neurosciences, with the goal of taking the resulting discoveries and translating them into innovative therapies for patient care.
The genetics effort is part of the Strategic Research Initiative’s effort to develop a comprehensive program to study and treat heart failure, building on the School of Medicine and IU Health’s expertise and resources in pediatric and adult cardiology and cardiothoracic and cardiovascular surgery. For example, IU School of Medicine has developed a highly respected research program in the genetic basis of pediatric heart failure led by Loren J. Field, Ph.D., director of the Riley Heart Research Center and a scientist at the Herman B Wells Center for Pediatric Research.
The initiative follows consensus reports issued in 2011 by the American Heart Association, the Heart Rhythm Society and the American College of Cardiology stating that the science of cardiovascular disease has progressed to the point that genetic testing should become standard treatment for many types of heart disease.
To support the genetics research and testing programs, the Strategic Research Initiative is supporting development of three biorepositories. The Human Cardiac Tissue Biorepository will collect tissues from patients with heart failure or who have undergone cardiac surgery. An implantable device biorepository will collect tissue from patients with severe heart failure requiring the assistance of an implanted device, such as an implantable cardioverter defibrillator. An ischemic heart disease biorepository will collect tissue from patients with coronary artery diseases who have undergone exercise stress testing.
As part of the cardiovascular program, Strategic Research Initiative funds have enabled the recruitment of a genetic counselor specializing in cardiovascular genetics and searches for other positions, including a director of cardiovascular genetics, are under way, Dr. Chen said.