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Updated: Aug 21, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Impact of Cardiomyopathy and Arrhythmia Genetic Testing on Clinical Management Decisions

Ana Morales, Yi-Lee Ting, Brianna Bucknor

    Medrxiv : the Preprint Server for Health Sciences
    |August 20, 2026
    PubMed

    Insights

    Genetic testing for cardiomyopathy and arrhythmia (CM/ARRH) significantly influences cardiologist recommendations for patient management. Positive genetic results, particularly in arrhythmogenic cardiomyopathy genes, increase the likelihood of clinical management changes.

    Area of Science:

    • Cardiology
    • Genetics
    • Clinical Decision Making

    Background:

    • Clinical guidelines recommend genetic testing for cardiomyopathy and arrhythmia (CM/ARRH).
    • Limited data exists on how CM/ARRH genetic test results impact clinical management.
    • This study aimed to determine the frequency of cardiologist-recommended management changes after CM/ARRH genetic testing.

    Purpose of the Study:

    • To determine the frequency of cardiologist-recommended management changes following CM/ARRH genetic testing.
    • To assess the influence of CM/ARRH genetic test results on clinical decision-making.
    • To compare management recommendations between positive and non-positive genetic test results.

    Main Methods:

    • Retrospective cross-sectional study of 249 patients undergoing multigene panel testing (April 2016-April 2024).
    • Recruited genetically-experienced cardiologists from multicenter academic practices to complete surveys on clinical decision-making.
    • Randomly selected cases with both positive and non-positive genetic test results for review.

    Main Results:

    • Over half of patients (54.6%) received clinical management recommendations.
    • Patients with positive genetic results were significantly more likely to receive management recommendations (47.8% vs 8.1%, P<0.00001).
    • Positive results in arrhythmogenic cardiomyopathy genes increased odds of recommended management changes (OR=3.63, P=0.009).

    Conclusions:

    • CM/ARRH genetic testing results influence cardiologists' medical decision-making and management recommendations.
    • Positive genetic findings, especially in specific genes, strongly correlate with recommended management changes.
    • Further research is needed to evaluate the impact of CM/ARRH genetic testing on patient health outcomes.
    Abstract

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