Genetics in medicine open · 2025
Implementation of genetic testing for heritable cardiac conditions: A scoping review.
СтатьяОбзорНазвание и аннотация: Перевод в очереди
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Morales Ana, Goehringer Jessica, McDonald Paige L, Sanoudou Despina
Аннотация
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.
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.