Morales Ana, Goehringer Jessica, McDonald Paige L, Sanoudou Despina
Translational Health Sciences Program, George Washington University School of Medicine and Health Sciences, Washington, DC.
Department of Genomic Health, Geisinger, Danville, PA.
Genet Med Open. 2025 Jun 30;3:103441. doi: 10.1016/j.gimo.2025.103441. eCollection 2025.
We aimed to identify themes and knowledge gaps about the current state of cardiovascular genetic testing implementation from the nongenetics clinician's perspective.
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.
PubMed and Scopus searches identified 32 original research articles documenting limited implementation by nongenetics professionals in familial hypercholesterolemia ( = 10), cardiovascular pharmacogenomics ( = 10), cardiomyopathy/arrhythmia ( = 5), and congenital heart defects ( = 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.
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.
我们旨在从非遗传学临床医生的角度，确定关于心血管基因检测实施现状的主题和知识空白。
心血管遗传学是一个新兴的亚专业，目前尚无正式培训，其实施是一项复杂的工作。因此，在系统评价与Meta分析扩展版的范围综述的首选报告项目（Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Review）的指导下，我们采用了范围综述方法，该方法涉及广泛的纳入标准，且对证据质量不做要求。
通过对PubMed和Scopus的检索，我们识别出32篇原创研究文章，这些文章记录了非遗传学专业人员在家族性高胆固醇血症（n = 10）、心血管药物基因组学（n = 10）、心肌病/心律失常（n = 5）和先天性心脏缺陷（n =
1）方面的实施情况有限。常见障碍包括教育和成本，而促进因素包括多学科合作以及采用技术辅助病例识别。该文献中很大程度上缺少了支付方和公共政策制定者的观点。
非遗传学专业人员实施心血管基因检测仍处于早期阶段。基于我们的研究结果，我们建议在与支付方和政策制定者协商的基础上，优先开展与临床医生教育、卫生经济学、技术和协作模式相关主题的实施研究。根据障碍和促进因素，我们为在心脏病诊所实施基因医学的临床医生和研究人员提供了建议。
