Implementation of genetic testing for heritable cardiac conditions: A scoping review
Purpose: We aimed to identify themes and knowledge gaps about the current state of cardiovascular genetic testing implementation from the nongenetics clinician’s perspective. Methods: Cardiovascular genetics is an emerging subspecialty for which no formal training exists, and its implementation is a...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425014803 |
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| author | Ana Morales Jessica Goehringer Paige L. McDonald Despina Sanoudou |
| author_facet | Ana Morales Jessica Goehringer Paige L. McDonald Despina Sanoudou |
| author_sort | Ana Morales |
| collection | DOAJ |
| description | Purpose: We aimed to identify themes and knowledge gaps about the current state of cardiovascular genetic testing implementation from the nongenetics clinician’s perspective. Methods: Cardiovascular genetics is an emerging subspecialty for which no formal training exists, and its implementation is a complex endeavor. Therefore, guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Review, which involves broad inclusion criteria and is agnostic to the quality of evidence, we conducted a scoping review methodology. Results: PubMed and Scopus searches identified 32 original research articles documenting limited implementation by nongenetics professionals in familial hypercholesterolemia (n = 10), cardiovascular pharmacogenomics (n = 10), cardiomyopathy/arrhythmia (n = 5), and congenital heart defects (n = 1). Common barriers included education and cost, whereas facilitators included multidisciplinary collaboration and adopting technology to assist with case identification. The perspective of payers and public policymakers was largely missing from this literature. Conclusion: Cardiovascular genetics implementation by nongenetics professionals is still in its early stages. Based on our results, we recommend prioritizing implementation research on topics related to clinician education, health economics, technology, and collaborative models in consultation with payers and policymakers. Informed by barriers and facilitators, we offer suggestions to clinicians and researchers implementing genetic medicine in cardiology clinics. |
| format | Article |
| id | doaj-art-4b156d3f5582496dac196f513155b341 |
| institution | Kabale University |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-4b156d3f5582496dac196f513155b3412025-08-20T03:35:47ZengElsevierGenetics in Medicine Open2949-77442025-01-01310344110.1016/j.gimo.2025.103441Implementation of genetic testing for heritable cardiac conditions: A scoping reviewAna Morales0Jessica Goehringer1Paige L. McDonald2Despina Sanoudou3Translational Health Sciences Program, George Washington University School of Medicine and Health Sciences, Washington, DC; Department of Genomic Health, Geisinger, Danville, PA; Correspondence and requests for materials should be addressed to Ana Morales, Department of Genomic Health, 658 Center Street, Danville, PA 17822-4400.Department of Genomic Health, Geisinger, Danville, PADepartment of Clinical Research and Leadership, George Washington University School of Medicine and Health Sciences, Washington, DCClinical Genomics and Pharmacogenomics Unit, 4th Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Athens, Greece; Center for New Biotechnologies and Precision Medicine, Medical School, National and Kapodistrian University of Athens, Athens, Greece; Biomedical Research Foundation of the Academy of Athens, Athens, GreecePurpose: We aimed to identify themes and knowledge gaps about the current state of cardiovascular genetic testing implementation from the nongenetics clinician’s perspective. Methods: Cardiovascular genetics is an emerging subspecialty for which no formal training exists, and its implementation is a complex endeavor. Therefore, guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Review, which involves broad inclusion criteria and is agnostic to the quality of evidence, we conducted a scoping review methodology. Results: PubMed and Scopus searches identified 32 original research articles documenting limited implementation by nongenetics professionals in familial hypercholesterolemia (n = 10), cardiovascular pharmacogenomics (n = 10), cardiomyopathy/arrhythmia (n = 5), and congenital heart defects (n = 1). Common barriers included education and cost, whereas facilitators included multidisciplinary collaboration and adopting technology to assist with case identification. The perspective of payers and public policymakers was largely missing from this literature. Conclusion: Cardiovascular genetics implementation by nongenetics professionals is still in its early stages. Based on our results, we recommend prioritizing implementation research on topics related to clinician education, health economics, technology, and collaborative models in consultation with payers and policymakers. Informed by barriers and facilitators, we offer suggestions to clinicians and researchers implementing genetic medicine in cardiology clinics.http://www.sciencedirect.com/science/article/pii/S2949774425014803BarriersCardiovascular geneticsFacilitatorsGenetic testingImplementation science |
| spellingShingle | Ana Morales Jessica Goehringer Paige L. McDonald Despina Sanoudou Implementation of genetic testing for heritable cardiac conditions: A scoping review Genetics in Medicine Open Barriers Cardiovascular genetics Facilitators Genetic testing Implementation science |
| title | Implementation of genetic testing for heritable cardiac conditions: A scoping review |
| title_full | Implementation of genetic testing for heritable cardiac conditions: A scoping review |
| title_fullStr | Implementation of genetic testing for heritable cardiac conditions: A scoping review |
| title_full_unstemmed | Implementation of genetic testing for heritable cardiac conditions: A scoping review |
| title_short | Implementation of genetic testing for heritable cardiac conditions: A scoping review |
| title_sort | implementation of genetic testing for heritable cardiac conditions a scoping review |
| topic | Barriers Cardiovascular genetics Facilitators Genetic testing Implementation science |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425014803 |
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