Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement

PurposeClinical 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 opportun...

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Main Authors: Kerstin Hundal, Courtney L. Scherr, Hoda Fakhari, Sanjana Ramesh, Lisa Dellefave-Castillo, Deb Duquette, Sara Cherny, Elizabeth M. McNally, Gregory Webster, Laura J. Rasmussen-Torvik
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
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Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1476466/full
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author Kerstin Hundal
Courtney L. Scherr
Hoda Fakhari
Sanjana Ramesh
Lisa Dellefave-Castillo
Deb Duquette
Sara Cherny
Elizabeth M. McNally
Gregory Webster
Laura J. Rasmussen-Torvik
Laura J. Rasmussen-Torvik
author_facet Kerstin Hundal
Courtney L. Scherr
Hoda Fakhari
Sanjana Ramesh
Lisa Dellefave-Castillo
Deb Duquette
Sara Cherny
Elizabeth M. McNally
Gregory Webster
Laura J. Rasmussen-Torvik
Laura J. Rasmussen-Torvik
author_sort Kerstin Hundal
collection DOAJ
description PurposeClinical 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.MethodsWe 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.ResultsParticipants 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.ConclusionClinical 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.
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spelling doaj-art-70b13c2a5e854b9ea08fbd0c78ce19272025-01-07T06:42:28ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-01-011510.3389/fgene.2024.14764661476466Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvementKerstin Hundal0Courtney L. Scherr1Hoda Fakhari2Sanjana Ramesh3Lisa Dellefave-Castillo4Deb Duquette5Sara Cherny6Elizabeth M. McNally7Gregory Webster8Laura J. Rasmussen-Torvik9Laura J. Rasmussen-Torvik10Department of Communication Studies, Northwestern University, Evanston, IL, United StatesDepartment of Communication Studies, Northwestern University, Evanston, IL, United StatesDepartment of Communication Studies, Northwestern University, Evanston, IL, United StatesDepartment of Communication Studies, Northwestern University, Evanston, IL, United StatesCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, United StatesCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, United StatesDivision of Cardiology (Pediatrics), Ann and Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, United StatesCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, United StatesDivision of Cardiology (Pediatrics), Ann and Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, United StatesCenter for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, United StatesDepartment of Preventive Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, United StatesPurposeClinical 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.MethodsWe 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.ResultsParticipants 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.ConclusionClinical 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.https://www.frontiersin.org/articles/10.3389/fgene.2024.1476466/fullclinical geneticspediatricsjourney mappingcardiologygenetic integration
spellingShingle Kerstin Hundal
Courtney L. Scherr
Hoda Fakhari
Sanjana Ramesh
Lisa Dellefave-Castillo
Deb Duquette
Sara Cherny
Elizabeth M. McNally
Gregory Webster
Laura J. Rasmussen-Torvik
Laura J. Rasmussen-Torvik
Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement
Frontiers in Genetics
clinical genetics
pediatrics
journey mapping
cardiology
genetic integration
title Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement
title_full Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement
title_fullStr Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement
title_full_unstemmed Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement
title_short Mapping the use of cardiovascular genetic services in pediatric clinical care: challenges and opportunities for improvement
title_sort mapping the use of cardiovascular genetic services in pediatric clinical care challenges and opportunities for improvement
topic clinical genetics
pediatrics
journey mapping
cardiology
genetic integration
url https://www.frontiersin.org/articles/10.3389/fgene.2024.1476466/full
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