Combined genetic testing may improve cardiomyopathy and arrhythmia diagnosis, management
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Genetic testing confirmed clinically relevant variants in 20% of patients suspected of having cardiomyopathy or an arrhythmia disorder, with 70% of positive diagnoses having clinical management implications, according to new research.
Combined genetic testing (Invitae) for heritable cardiomyopathies and arrhythmias identified 11% of positive diagnoses that would have been missed by condition-specific panels, according to Elizabeth McNally, MD, PhD, cardiologist and director of the Center for Genetic Medicine at Northwestern University Feinberg School of Medicine.
“Genetic testing is underutilized for cardiomyopathies and arrhythmia conditions, despite being recommended by society guidelines,” McNally told Healio. “About 20% of patients with cardiomyopathy or arrhythmia conditions will receive an actionable genetic result. The results inform clinical prognosis and management, and even gene-specific therapies for some conditions.”
Genetic testing for heritable cardiomyopathy and arrhythmias is recommended by cardiology professional societies; however, the advantages of comprehensive, multi-condition gene panels compared with condition-specific panels are not fully understood, according to the presentation.
To evaluate the clinical implications of combined cardiomyopathy and arrhythmia genetic testing, researchers utilized data from a no-charge genetic testing program and assessed up to 150 genes associated with cardiomyopathies and arrhythmias. Positive results were compared with provider diagnoses at the time of testing request. The results were presented at the American Heart Association Scientific Sessions.
Among 4,782 participants included in the study, a positive molecular diagnosis was observed in 20%.
Seventy percent of the positive results had implications for clinical management, including genes associated with targeted therapy in 6% or increased risk for ventricular arrhythmia in 18%, the researchers reported.
For 11% of evaluable participants, a positive diagnosis would have been missed by condition-specific panels based on clinician-provided diagnoses, according to McNally and colleagues.
“A major barrier for genetic testing is simply that many cardiologists are not familiar with genetic testing, including how and when to order it and how to interpret some results,” McNally told Healio. “Through efforts supported by the American Heart Association and other groups, new educational materials are being developed and deployed to improve this knowledge gap. Genetic counselors can play a significant role in helping cardiologists obtain genetic testing, and many genetic counselors now specialize in cardiogenetics.”
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Dellefave-Castillo LM, et al. Presentation VMP117. Presented at: American Heart Association Scientific Sessions; Nov. 13-15, 2021 (virtual meeting).
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