Abstract
Purpose: Clinical genetic testing is increasingly integrated in managing and diagnosing cardiac conditions and disease. It is important to identify ongoing challenges. This study aimed to better understand how genetic testing is integrated into pediatric cardiac care and identify barriers and opportunities for improvement. Methods: We conducted qualitative interviews with pediatric cardiology clinicians (N = 12). Following a journey mapping approach to data analysis, we described genetic testing workflow phases, participants’ thoughts and behaviors within each phase, and barriers and opportunities for improvement. Results: Participants described several challenges across the genetic testing workflow, from identifying patients for testing to disclosing results to the patients. Testing logistics, decision-making, and collaboration emerged as the most prominent challenges. Variation remains in the utilization of genetic testing, partially driven by case complexity and type of testing and attributable to other factors, like the level of interaction with genetics experts and inconsistent processes within the electronic medical record. Conclusion: Clinical genetic pediatric cardiology requires more systematic integration of genetic testing and transparent processes. Major opportunities include the interplay between clinicians, genetic experts, and the EMR. Incorporating process mapping results into clinical logistics may eradicate some barriers experienced by pediatric cardiologists and increase clinical efficiency.
| Original language | English (US) |
|---|---|
| Article number | 1476466 |
| Journal | Frontiers in Genetics |
| Volume | 15 |
| DOIs | |
| State | Published - 2024 |
Funding
The author(s) declare that financial support was received for the research, authorship, and/or publication of this article. This project was funded, in part, by the American Heart Association Cardiac Death Strategically Focused Research Network (grants 19SFRN32830054 and 19SFRN34850101), a Strategically Focused Research Network grant from the American Heart Association. REDCap is supported at FSM by the Northwestern University Clinical and Translational Science (NUCATS) Institute. Research reported in this publication was supported, in part, by the National Institutes of Health\u2019s National Center for Advancing Translational Sciences, Grant Number UL1TR001422. The content is solely the authors\u2019 responsibility and does not necessarily represent the official views of the National Institutes of Health.
Keywords
- cardiology
- clinical genetics
- genetic integration
- journey mapping
- pediatrics
ASJC Scopus subject areas
- Molecular Medicine
- Genetics
- Genetics(clinical)