TY - JOUR
T1 - An intervention strategy to improve genetic testing for dilated cardiomyopathy in a heart failure clinic
AU - Mohananey, Akanksha
AU - Tseng, Andrew S.
AU - Julakanti, Raghav R.
AU - Gonzalez-Bonilla, Hilda M.
AU - Kruisselbrink, Teresa
AU - Prochnow, Carri
AU - Rodman, Sandra
AU - Lin, Grace
AU - Redfield, Margaret M.
AU - Rosenbaum, Andrew N.
AU - Pereira, Naveen L.
N1 - Funding Information:
We would like to acknowledge the HF nurses who helped implement the intervention. No funding was received for this work. Conceptualization: A.M. N.L.P.; Data Curation: A.M. A.S.T. R.R.J. H.M.G.-B.; Formal Analysis: A.M. A.S.T.; Investigation: A.M. A.S.T. N.L.P.; Methodology: A.M. N.L.P.; Resources: N.L.P.; Supervision: N.L.P.; Writing-original draft: A.M.; Writing-review and editing: A.S.T. R.R.J. H.M.G.-B. T.K. C.P. S.R. G.L. M.M.R. A.N.R. N.L.P. The study was reviewed by Mayo Clinic Institutional Review Board, and the research was considered exempt, and it qualified as no risk or minimal risk to subjects.
Publisher Copyright:
© 2022 American College of Medical Genetics and Genomics
PY - 2023/3
Y1 - 2023/3
N2 - 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.
AB - 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.
KW - Dilated cardiomyopathy
KW - Genetic screening
KW - Practice improvement intervention
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U2 - 10.1016/j.gim.2022.11.009
DO - 10.1016/j.gim.2022.11.009
M3 - Article
C2 - 36472615
AN - SCOPUS:85143910354
SN - 1098-3600
VL - 25
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 3
M1 - 100341
ER -