Biomedical subjects

Jane Wilcox

Publications and source records attributed to Jane Wilcox.

3 recordsLinked to original sources

PubMed2026

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

BACKGROUND: Clinical genetic evaluation for patients with dilated cardiomyopathy (DCM) is minimally implemented, and models of care are not well defined. To understand current genetic care for DCM, a systematic needs assessment was conducted. METHODS: Principal investigators of the DCM Consortium convened at the Summer Scientific Symposium in July 2025. An electronic needs assessment was conducted among the 24 principal investigators in advance to define current care models by evaluating which genetic evaluation components recommended by the Heart Failure Society of America were conducted, by whom, and the time required for each component. 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 principal investigator responses: model 1: Traditional-Synchronous (25%, n=6, requiring the most time per patient); model 2: Traditional-Asynchronous (33%, n=8); model 3: Externally Sourced (17%, n=4); and model 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; model 1 versus model 4; P=0.027; model 2 versus model 4; P=0.023). Notably, 88% of principal investigators used genetic information for treatment decisions, including implantable cardioverter defibrillator placement (83%; n=20) and cardiac transplantation (63%; n=15). Major facilitator themes from focus group discussions included having a genetic counselor as part of the heart failure 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, although all sites discussed similar factors that enable or hinder the implementation of genetic services for DCM. Understanding the basis of practice model variability may provide insight to yield more scalable care approaches.

cardiomyopathy, dilated↗

PubMed2026

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

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 genetics↗

PubMed2025

Single-Cell Splicing Isoform Atlas of the Adult Human Heart and Heart Failure.

BACKGROUND: Alternative splicing plays crucial roles in normal heart development and cardiac disease by influencing protein-coding sequences, functional domains, and molecular networks. However, a detailed characterization of the human heart isoform landscape remains incomplete. METHODS: Leveraging long-read single-nucleus RNA sequencing and computational analysis, we dissected full-length isoform heterogeneities, expression patterns, and usage shifts across cell types, cell states, and cardiac conditions of the adult left ventricle. We applied in silico approaches to assess the functional relevance of identified isoforms; validated isoform compositions of representative cardiac genes using reverse transcription quantitative polymerase chain reaction and targeted amplicon sequencing; and developed a web server for interactive navigation of our results. RESULTS: The data revealed that isoform heterogeneity is widespread in the cardiac cellular system, serving as a posttranscriptional buffer mechanism that calibrates the molecule reservoirs in human hearts. In healthy left ventricles, ≈30% of cell type-specific genes were polyform, using multiple isoforms tailored to cell type-specific programs. Among ubiquitously expressed genes, >300 showed differential isoform usage with cell type specificity in normal hearts. Comparisons of cardiomyocytes across conditions uncovered 379 genes with marked isoform usage shifts, most of which are predicted to change protein coding outcomes through direct changes in protein coding sequences and switches between intron retention and non-protein-coding biotypes. In contrast, cell state-specific programs tend to operate on monoform genes associated with changes among cell states. In addition, our data revealed heart failure-associated differential isoform usage events in stromal and immune cell types in the cardiac microenvironment. CONCLUSIONS: We present a comprehensive atlas of splicing isoforms in the normal adult heart and heart failure through long-read single-nucleus RNA sequencing and computational analyses. The results suggest crucial roles of isoforms in buffering core cellular programs and contributing to disease-associated cell states. The full-length details of these cell-specific isoforms serve as an important reference for downstream translational and mechanistic studies and are available on our online data portal at https://github.com/gaolabtools/heart-isoform-atlas.

Humans↗