title: Toward Personalized Medicine: Does Genetic Diagnosis of Pediatric Cardiomyopathy Influence Patient Management?
abstract: A goal of personalized medicine is to provide increasingly sophisticated, individualized approaches to management and therapy for disease. Genetics is the engine that drives personalized medicine, holding the promise of therapeutics directed toward the unique needs of each patient. The 3rdInternational Conference on Cardiomyopathy in Children provided a forum to discuss the current status of personalized approaches to diagnosis, management, and therapy in the pediatric cardiomyopathy population. This review will focus on the importance of genetic diagnosis in this population as a necessary first step toward understanding the best approach to management and influencing disease outcome. The genetic heterogeneity of cardiomyopathy in children, the implications of specific genotypes, the ability to risk stratify based on genotype, and the impact on cascade screening in family members will be discussed.
authors.affiliation: Department of Pediatrics, Division of Pediatric Cardiology, Columbia University Medical Center, New York, NY 10032.
authors.forename: Teresa M
authors.initials: TM
authors.lastname: Lee
authors.affiliation: Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202.
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Ware
keywords: cascade screening; metabolic; sarcomere; syndrome