An intervention strategy to improve genetic testing for dilated cardiomyopathy in a heart failure clinic

Akanksha Mohananey, Andrew S. Tseng, Raghav R. Julakanti, Hilda M. Gonzalez-Bonilla, Teresa Kruisselbrink, Carri Prochnow, Sandra Rodman, Grace Lin, Margaret M. Redfield, Andrew N. Rosenbaum, Naveen L. Pereira

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Article number100341
JournalGenetics in Medicine
Volume25
Issue number3
DOIs
StatePublished - Mar 2023

Keywords

  • Dilated cardiomyopathy
  • Genetic screening
  • Practice improvement intervention

ASJC Scopus subject areas

  • Genetics(clinical)

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