Care Models for the Genetic Evaluation of Dilated Cardiomyopathy at Sites of the DCM Consortium

DCM联盟各中心扩张型心肌病基因评估的护理模式

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Abstract

BACKGROUND: Clinical genetic evaluation for patients with dilated cardiomyopathy (DCM) is minimally implemented and models of care are not defined. To understand current genetics care for DCM, a systematic needs assessment was conducted. METHODS: Principal Investigators (PIs) of the DCM Consortium convened at the Summer Scientific Symposium in July 2025. An electronic needs assessment was collected from the 24 PIs in advance to define current care models by evaluating which Heart Failure Society of America-recommended genetic evaluation components are conducted, by whom, and time required. Descriptive statistics were generated to characterize model features. Focus group discussions explored barriers and facilitators to implementing genetic services. RESULTS: Four care models emerged from the PI responses: 1 - Traditional-Synchronous (25%, n=6, requiring the most time per patient), 2 - Traditional-Asynchronous (33%, n=8), 3 - Externally Sourced (17%, n=4), and 4 - Physician/Advanced Practice Provider Conducted (25%, n=6, requiring the least time per patient). All models used genetic testing, whereas other components were implemented variably or not at all. Models 1 (15.7 ± 4.1) and 2 (15.4 ± 3.0) were rated more acceptable than Model 4 (9.8 ± 2.9; 1 vs 4: p =0.027; 2 vs 4, p =0.023). Notably, 88% of PIs used genetic information for treatment decisions, including ICD placement (83%; n=20) or cardiac transplant (63%; n=15). Major facilitator themes from focus group discussions included having a genetic counselor on the HF team and developing authoritative standards directing provision of DCM genetic services. Barrier themes included operational challenges, limited personnel, clinician under-recognition, need for new service delivery models, and billing/reimbursement. CONCLUSIONS: DCM genetic care models and components were highly variable across the 24 sites of the DCM Consortium, even though all sites discussed similar factors that enable or hinder implementing genetic services for DCM. Understanding the basis of practice model variability may provide insight to yield more scalable care approaches.Clinical Perspective: What is new?Four care models to deliver genetic evaluation services for the assessment of dilated cardiomyopathy (DCM) were identified across the 24 sites of the DCM Consortium.Despite universal use of genetic testing and shared barriers and facilitators across sites, substantial variability exists across and within identified model types, and clinical genetic evaluation is not routinely implemented for all patients with DCM.What are the clinical implications?For Heart Failure (HF) centers seeking to implement genetics services for DCM patients and families, the DCM Consortium describes the scaffolding of current care models implemented at HF centers across the US to inform local program development.The incompletely and variably implemented care models highlight the need for a standardized, scalable framework to enhance consistent and equitable integration of clinical genetic evaluation into routine DCM care.

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