Wendy Chung, MD, PhD
Impact of Genetic Testing For Cardiomyopathies on Children and Their Families
Columbia University, New York, NY
2017 Amount Awarded – $50,000
Cardiomyopathy is a clinically and genetically heterogeneous cardiac condition affecting individuals of all ages. Given the autosomal dominant mode of inheritance of many cardiomyopathies, the incomplete penetrance, and the variability in age of onset and severity even within a family, there are implications for other family members including children when cardiomyopathy is diagnosed within a family. Genetic testing for cardiomyopathy in patients of all ages, including children and adolescents, is becoming more common. However, the impact of genetic testing on children and their families is largely unexplored. Genetic testing during adolescence can have a significant impact on the formation of identity, particularly when predicting future risk in asymptomatic individuals. Studies in families with other autosomal dominant conditions, including familial adenomatous polyposis and hereditary breast cancer, have demonstrated significantly higher cancer-specific distress than their peers. This was strongly associated with higher maternal anxiety and poorer family communication. This study involving 8 study sites will describe the overall impact of cardiomyopathy genetic testing on psychosocial well-being, family relationships, and quality of life of patients and their parents. This will be achieved through online questionnaires and semi-structured interviews to determine if there are opportunities to improve this process for families in the future.