# Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs

## TL;DR

This study explores how pediatric cardiomyopathy programs use genetic testing and how they interpret genetic results in clinical practice.

## Contribution

The study reveals variability in genetic testing resources and practices among pediatric cardiomyopathy programs.

## Key findings

- Few centers have geneticists or genetic counselors on faculty.
- Clinical practices are more consistent for pathogenic variants than for variants of uncertain significance.
- Only a small percentage of centers have processes to re-engage patients based on variant reclassification.

## Abstract

The use of genetic testing has enhanced the diagnostic accuracy of heritable genetic cardiomyopathies. However, it remains unclear how genetic information is interpreted and incorporated into clinical practice for children with cardiomyopathy. The primary aim of this study was to understand how clinical practice differs regarding sequence variant classifications amongst pediatric cardiologists who treat children with cardiomyopathy. A secondary aim was to understand the availability of genetic testing and counseling resources across participating pediatric cardiomyopathy programs. An electronic survey was distributed to pediatric heart failure, cardiomyopathy, or heart transplantation physicians between August and September 2022. A total of 106 individual providers from 68 unique centers responded to the survey. Resources for genetic testing and genetic counseling vary among large pediatric cardiomyopathy programs. A minority of centers reported having a geneticist (N = 16, 23.5%) or a genetic counselor (N = 21, 31%) on faculty within the division of pediatric cardiology. A total of 9 centers reported having both (13%). Few centers (N = 13, 19%) have a formal process in place to re-engage patients who were previously discharged from cardiology follow-up if variant reclassification would alter clinical management. Clinical practice patterns were uniform in response to pathogenic or likely pathogenic variants but were more variable for variants of uncertain significance. Efforts to better incorporate genetic expertise and resources into the clinical practice of pediatric cardiomyopathy may help to standardize the interpretation of genetic information and better inform clinical decision-making surrounding heritable cardiomyopathies.

The online version contains supplementary material available at 10.1007/s00246-024-03498-6.