Combined genetic testing for cardiomyopathies and arrhythmias yields positive results

Researchers have confirmed that combined genetic testing for cardiomyopathies and arrhythmias can provide significant value, a finding they plan to present Nov. 13 at the American Heart Association (AHA) Scientific Sessions 2021.

The team behind the study included representatives from Northwestern University and Invitae, a San Francisco-based medical genetics company. The group evaluated data from nearly 5,000 patients who were tested from 2019 to 2020.

The goal of the study was to better comprehend the outcome and treatment implications of combined cardiomyopathy and arrhythmia genetic testing for genes tied to suspected cardiac genetic conditions.

Overall, 20% of patients had a positive test result. Of those positive results, 66% were projected to have implications on the patient's clinical management.

In addition, 10.9% of the patients who were evaluated would have had their finding missed had they only had a condition-specific panel instead of the combined cardiomyopathy and arrhythmia genetic test.

“Genetic testing for heritable cardiomyopathy and arrhythmia is recommended by cardiology professional societies, and this study underscores the value of using genetic information to improve diagnosis and treatment of these potentially life-threatening conditions that can cause heart failure and sudden cardiac death," co-author Elizabeth M. McNally, MD, PhD, director of the Center for Genetic Medicine at Northwestern University Feinberg School of Medicine, said in a prepared statement. "This research demonstrated the advantages of using a comprehensive, multi-condition gene panel to diagnose and provide critical insights that clinicians can use to tailor treatments."