Jordan Elizabeth, Ni Hanyu, Parker Patricia, Kinnamon Daniel D, Owens Anjali, Lowes Brian, Shenoy Chetan, Martin Cindy M, Judge Daniel P, Fishbein Daniel P, Stoller Douglas, Minami Elina, Kransdorf Evan, Smart Frank, Haas Garrie J, Huggins Gordon S, Ewald Gregory A, Diamond Jamie, Wilcox Jane E, Jimenez Javier, Wang Jessica, Tallaj Jose, Drazner Mark H, Hofmeyer Mark, Wheeler Matthew T, Pinzon Omar Wever, Shah Palak, Gottlieb Stephen S, Katz Stuart, Shore Supriya, Tang W H Wilson, Hershberger Ray E
The Davis Heart and Lung Research Institute, The Ohio State University, Columbus, OH.
Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH.
medRxiv. 2024 Nov 26:2024.11.22.24317816. doi: 10.1101/2024.11.22.24317816.
Clinical genetic evaluation of dilated cardiomyopathy (DCM) is implemented variably or not at all. Identifying needs and barriers to genetic evaluations will enable strategies to enhance precision medicine care.
An online survey was conducted in June 2024 among cardiologist investigators of the DCM Consortium from US advanced heart failure/transplant (HF/TX) programs to collect demographics, training, program characteristics, genetic evaluation practices for DCM, and implementation needs. An in-person discussion followed.
Twenty-five cardiologists (28% female, 12% Hispanic, 68% White) participated in the survey and 15 in the discussion; genetics training backgrounds varied greatly. Clinical genetic testing for DCM was conducted by all programs with annual uptake ranging from 5%-70% (median 25%). Thirteen respondents (52%) did not use selection criteria for testing whereas others selected patients based on specific clinical and family history data. Eight (32%) ordered testing by themselves, and the remainder had testing managed mostly by a genetic counselor or others with genetic expertise (16/17; 94%). Six themes were distilled from open-ended responses regarding thoughts for the future and included access to genetics services, navigating uncertainty, knowledge needs, cost concerns, family-based care barriers, and institutional infrastructure limitations. Following an in-person discussion, four areas were identified for focused effort: improved reimbursement for genetic services, genetic counselor integration with HF/TX teams, improved provider education resources, and more research to find missing heritability and to resolve uncertain results.
HF/TX programs have implementation challenges in the provision of DCM genetic evaluations; targeted plans to facilitate precision medicine for DCM are needed.
扩张型心肌病（DCM）的临床基因评估实施情况不一，甚至有些地方根本未开展。明确基因评估的需求和障碍将有助于制定提高精准医疗服务的策略。
2024年6月，对美国晚期心力衰竭/移植（HF/TX）项目的DCM联盟心脏病专家进行了一项在线调查，以收集人口统计学信息、培训情况、项目特征、DCM的基因评估实践以及实施需求。随后进行了面对面讨论。
25名心脏病专家（28%为女性，12%为西班牙裔，68%为白人）参与了调查，15人参与了讨论；基因培训背景差异很大。所有项目均开展了DCM的临床基因检测，年检测率在5%至70%之间（中位数为25%）。13名受访者（52%）在检测时未使用选择标准，而其他受访者则根据特定的临床和家族病史数据选择患者。8人（32%）自行安排检测，其余大多由遗传咨询师或其他具有基因专业知识的人员管理检测（16/17；94%）。从关于未来想法的开放式回答中提炼出六个主题，包括获得基因服务、应对不确定性、知识需求、成本担忧、基于家庭的护理障碍以及机构基础设施限制。经过面对面讨论，确定了四个重点工作领域：改善基因服务的报销、将遗传咨询师纳入HF/TX团队、改善医疗服务提供者的教育资源，以及开展更多研究以寻找缺失的遗传力并解决不确定的结果。
HF/TX项目在提供DCM基因评估方面存在实施挑战；需要制定有针对性的计划以促进DCM的精准医疗。
