Parental perspectives on clinical guidelines and genetic testing for familial cardiomyopathy in children
Parva Mashar
Co-Presenters: Individual Presentation
College: The College of Health Professions and Human Services
Major: Genetic Counseling
Faculty Research Mentor: Jill Fischer
Abstract:
Cardiomyopathy is a structural and functional disorder of the cardiac muscle that can cause severe, often debilitating symptoms. It is commonly inherited in an autosomal dominant fashion. Current guidelines recommend genetic testing for individuals with a clinical diagnosis of cardiomyopathy to identify the underlying genetic cause to subsequently guide treatment and family screening recommendations. Given the extreme variability of symptoms and age of onset even within family members, the current guidelines recommend genetic testing for all non-symptomatic first-degree family members of individuals found to have a pathogenic genetic mutation regardless of their age including children. This study investigated patient understanding on current guidelines for testing for first-degree relatives diagnosed with cardiomyopathy and their views on genetic testing for their minor children.Anonymous surveys were sent out to patient support groups the Dilated Cardiomyopathy Foundation, the Genetic Cardiomyopathy Awareness Consortium, and the Children’s Cardiomyopathy Foundation through the months of October – December 2024. Participants were eligible to participate if they were >18 years old, had positive genetic test results, and had at least one child <18 years of age. A total of 10 patients participated in this research; The survey included demographic questions and additional questions on their perceived symptoms of cardiomyopathy, age of onset, views on getting genetic testing for their children and motivation behind their decision.The findings suggest that patients indeed have a thorough understanding of cardiomyopathy guidelines, the importance of genetic testing for the first-degree family members and genetic testing for their children. The results highlighted some of the ethical, psychosocial considerations of parents regarding the repercussions of genetic testing for children for familial cardiomyopathy gene mutation. However, given the small and motivated patient pool ,more research on a larger, diverse patient population is required. All patients in our study met with a genetic counselor and were aware of the current guidelines, suggesting that genetic counselors play an important role in educating patients about risk for first-degree family members, and making informed genetic testing decisions for their children.