Abstract
Purpose
Despite its clinical implications in screening and therapy, genetic testing in dilated
cardiomyopathy (DCM) is underused. This study evaluated implementing a practice intervention
in a heart failure clinic to automate and streamline the process of genetic testing.
Methods
Eligible patients with DCM were compared for frequency of pretest genetic education
and testing during pre- and postintervention periods. The intervention comprised automated
prescheduling of a cardiovascular genomics e-consult that served as a placeholder
for downstream, pretest education, testing, and post-test review of genetic results.
Results
Patients with DCM were more likely to undergo pretest genetic education after intervention
than before intervention (33.5% vs 14.8%, P < .0001). Similarly, patients with DCM were more likely to undergo genetic testing
after intervention than before intervention (27.3% vs 13.0%, P = .0006). The number of patients who were diagnosed to have likely pathogenic or
pathogenic genetic variants were 2 of 21 (9.5%) and 6 of 53 (11.1%) before and after
intervention, respectively, and variants were present in the following genes: FLNC, TTN, DES, LMNA, PLN, and TNNT2.
Conclusion
An intervention strategy in a heart failure clinic to increase the rates of pretest
genetic education and testing in eligible patients with DCM was feasible and efficacious
and may have important implications for the management of DCM.
Graphical abstract
Graphical Abstract
Keywords
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Article info
Publication history
Published online: December 06, 2022
Accepted:
November 10,
2022
Received in revised form:
November 9,
2022
Received:
May 16,
2022
Footnotes
Akanksha Mohananey and Andrew S. Tseng are co–first authors.
Identification
Copyright
© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
