Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening

Genetic testing (GT) is clinically indicated for patients with suspected inherited cardiomyopathy (CM) but is underutilized. This single-center study included patients with CM who underwent outpatient GT from 2018 to 2023. Data were collected from the medical record. A total of 306 patients were included, with a mean age of 62 years and were predominantly male (63%) and White (59%). Heart failure (92%) cardiologists were most likely to order testing, followed by general cardiology (5%) providers at tertiary hospital clinics (89%). The most common phenotypes were hypertrophic (30%), amyloid (29%) and dilated (21%). There were 17% of patients who had a positive test and 53% of patients who had a variant of uncertain significance. Patients with a positive family history had a significantly higher positive yield compared to those without (<i>p</i> &lt; 0.01). Genetic counselors were underutilized (17%). For patients who had a positive test result, only 40% had cascade screening. Outpatient GT for CM was primarily ordered by heart failure cardiologists in tertiary hospital clinics. Cascade screening was low, which may reflect the limited use of genetic counselors. Further research is needed to understand implementation barriers to GT. We studied how genetic testing is used in patients with a heart muscle disorder to understand barriers that may limit its use. Our study included 306 patients who had outpatient genetic testing between 2018 and 2023. We found that heart failure cardiologists ordered most of the tests, while general cardiologists and electrophysiologists ordered fewer. Genetic testing was less common in clinics that care for underserved communities. Additionally, family screening with genetic testing was infrequent, possibly due to limited referrals to genetic counselors. These findings highlight key barriers to genetic testing and can help guide strategies to improve use.

基因检测（Genetic Testing，GT）对于疑似遗传性心肌病（Inherited Cardiomyopathy，CM）的患者具有临床适应证，但目前该检测的临床应用仍存在不足。本单中心研究纳入了2018年至2023年间于门诊接受基因检测的心肌病患者，所有研究数据均从患者病历中提取。本研究共纳入306例患者，平均年龄为62岁，其中男性占比63%、白人占比59%，为主要人群构成。开具基因检测申请的医师以心力衰竭专科医师为主（占比92%），其次为普通心血管内科医师（占比5%），相关检测中89%均在三级医院门诊开展。最常见的心肌病表型为肥厚型心肌病（30%）、淀粉样变性型心肌病（29%）以及扩张型心肌病（21%）。17%的患者检测结果呈阳性，53%的患者检出意义未明变异（Variant of Uncertain Significance，VUS）。有阳性家族史的患者，其检测阳性率显著高于无家族史者（p < 0.01）。遗传咨询服务的应用率偏低，仅17%的患者接受了专业遗传咨询。对于检测结果呈阳性的患者，仅40%接受了家系级联筛查（Cascade Screening）。门诊遗传性心肌病基因检测主要由三级医院门诊的心力衰竭专科医师开具。家系级联筛查的开展率偏低，这可能与遗传咨询服务的应用不足有关。未来仍需开展进一步研究，以明确限制基因检测临床应用的各类实施障碍。
本研究聚焦于心肌疾病患者的基因检测应用现状，旨在明确限制其临床推广的各类障碍。研究共纳入2018年至2023年间接受门诊基因检测的306例心肌病患者。结果显示，绝大多数检测申请由心力衰竭专科医师开具，普通心血管内科医师与心脏电生理专科医师（Electrophysiologists）的申请占比相对较低。在服务于弱势人群的门诊中，基因检测的应用更为稀缺。此外，基于基因检测的家系筛查开展频率偏低，这可能与遗传咨询转诊渠道受限有关。本研究结果明确了基因检测临床应用的核心障碍，可为制定优化其临床应用的策略提供参考依据。