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

被引:8
作者
Mohananey, Akanksha [1 ]
Tseng, Andrew S. [1 ]
Julakanti, Raghav R. [1 ]
Gonzalez-Bonilla, Hilda M. [1 ]
Kruisselbrink, Teresa [1 ]
Prochnow, Carri [1 ]
Rodman, Sandra [1 ]
Lin, Grace [1 ]
Redfield, Margaret M.
Rosenbaum, Andrew N. [1 ]
Pereira, Naveen L. [1 ,2 ,3 ]
机构
[1] Mayo Clin, Dept Cardiovasc Med, Coll Med, Rochester, MN USA
[2] Dept Mol Pharmacol & Expt Therapeut, Rochester, MN USA
[3] Mayo Clin, Dept Cardiovasc Med, Coll Med, 200 First St SW, Rochester, MN 55905 USA
关键词
Dilated cardiomyopathy; Genetic screening; Practice improvement intervention; EXPERT CONSENSUS STATEMENT;
D O I
10.1016/j.gim.2022.11.009
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 down-stream, 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.& COPY; 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
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页数:7
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