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ORIGINAL RESEARCH article

Front. Genet.
Sec. ELSI in Science and Genetics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1476466

Mapping the Use of Cardiovascular Genetic Services in Pediatric Clinical Care: Challenges and Opportunities for Improvement

Provisionally accepted
Kerstin Hundal Kerstin Hundal 1*Courtney L Scherr Courtney L Scherr 1Hoda Fakhari Hoda Fakhari 1Sanjana Ramesh Sanjana Ramesh 1Lisa Dellefave-Castillo Lisa Dellefave-Castillo 2Debra Duquette Debra Duquette 2Sara Cherny Sara Cherny 2Elizabeth M McNally Elizabeth M McNally 2Greg Webster Greg Webster 2Laura J Rasmussen-Torvik Laura J Rasmussen-Torvik 2
  • 1 Northwestern University, Evanston, United States
  • 2 Northwestern Medicine, Chicago, Illinois, United States

The final, formatted version of the article will be published soon.

    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.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, decisionmaking, 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.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.

    Keywords: Clinical genetics, Pediatrics, Journey mapping, Cardiology, Genetic integration

    Received: 05 Aug 2024; Accepted: 17 Dec 2024.

    Copyright: © 2024 Hundal, Scherr, Fakhari, Ramesh, Dellefave-Castillo, Duquette, Cherny, McNally, Webster and Rasmussen-Torvik. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Kerstin Hundal, Northwestern University, Evanston, United States

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.