Impact of Cardiomyopathy and Arrhythmia Genetic Testing on Clinical Management Decisions

Multigene cardiomyopathy and arrhythmia panel whose result guides patient management and screening of at-risk relatives.

Guidelines recommend genetic testing in inherited cardiomyopathies and arrhythmias, but data on how results actually influence management remain limited. This retrospective cross-sectional study analysed 249 patients referred for multigene panel testing between April 2016 and April 2024, selected to include both positive (n = 138) and non-positive (n = 111) results, with genetically experienced cardiologists at several academic centres completing surveys on the decisions taken. Overall, 136 patients (54.6%) received management recommendations for their own or their at-risk relatives' care, of whom 75 (55.1%) for their own care, most often additional diagnostic tests or procedures (n = 33). Positive results led far more often to a change in the patient's own management than non-positive results (47.8% versus 8.1%; p < 0.00001), and variants in arrhythmogenic cardiomyopathy genes were associated with higher odds of a management change than TTN variants (OR 3.63; 95% CI 1.40-9.84; p = 0.009).

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The figure of 47.8% of management changes after a positive result is the concrete argument that was missing to defend access to testing in these indications. But the endpoint is declarative, recommendations reported by survey rather than procedures performed or events avoided, in a sample deliberately enriched for positive results. Usable as a service-level argument, not as a demonstration of clinical benefit.

Analysis by Dr Thibaut Benquey