Balakrishnan Iswaree D, Bylstra Yasmin, Fong Nikki, Chai Nellie B S, Kam Sylvia, Khoo Chun Yuan, Chan Laura L H, Koh Angela S, Tang Hak Chiaw, Lim Eric, Tan Ju Le, Lim Weng Khong, Pua Chee Jian, Sim David, Cook Stuart A, Tan Ee Shien, Yeo Khung Keong, Jamuar Saumya S
Department of Cardiology, National Heart Centre Singapore, Singapore.
SingHealth Duke-NUS Genomic Medicine Centre, Singapore.
Genet Med Open. 2024 Jul 24;2:101877. doi: 10.1016/j.gimo.2024.101877. eCollection 2024.
The integration of cardiovascular genetic (CVG) testing into clinical practice is gaining recognition, but its implementation in the Asian setting has not been widely reported. We present our experience developing a clinical CVG service and analyze its impact on patient care at our center.
In 2020, the National Heart Centre Singapore collaborated with SingHealth Duke-NUS Genomic Medicine Centre, to establish a comprehensive clinical CVG service. We retrospectively gathered details regarding referral indication and the clinical utility of genetic counseling and testing.
Over a period of 2.5 years, 113 patients aged 17 to 94 years, were seen by the CVG team. The cohort included 79 males and 34 females: 82 of Chinese ancestry, 11 Indian, 7 Malay, and 13 from other ancestries. The most common reason for referral was for cardiomyopathy, followed by aortopathy. After clinical evaluation, 98 patients were offered genetic testing, of which 63 (64%) patients proceeded with genetic testing (diagnostic testing = 51, predictive testing = 10, familial segregation analysis = 2). Eleven patients were referred for continuation of care. Overall, CVG testing added value to the care of 44 patients by clarifying clinical diagnosis, ruling out inherited cardiac disorders, aiding variant of uncertain significance resolution, and/or facilitating cascade testing.
Our pilot initiative has provided insights into the practical value, obstacles, and opportunities for developing a clinical CVG service. The establishment of our clinical CVG service not only enhanced patient care but also demonstrated its scalability through collaborative partnerships with domain experts.
心血管遗传学（CVG）检测融入临床实践正逐渐得到认可，但其在亚洲地区的实施情况尚未得到广泛报道。我们介绍了开展临床CVG服务的经验，并分析了其对我们中心患者护理的影响。
2020年，新加坡国立心脏中心与新加坡健康城-杜克-国大基因组医学中心合作，建立了全面的临床CVG服务。我们回顾性收集了有关转诊指征以及遗传咨询和检测的临床效用的详细信息。
在2.5年的时间里，CVG团队共诊治了113名年龄在17至94岁之间的患者。该队列包括79名男性和34名女性：82名华裔，11名印度裔，7名马来裔，以及13名其他族裔。最常见的转诊原因是心肌病，其次是主动脉病变。经过临床评估，98名患者接受了基因检测，其中63名（64%）患者进行了基因检测（诊断性检测=51例，预测性检测=10例，家族分离分析=2例）。11名患者被转诊以继续接受治疗。总体而言，CVG检测通过明确临床诊断、排除遗传性心脏疾病、辅助解决意义未明的变异以及/或促进级联检测，为44名患者的护理增加了价值。
我们的试点项目为开展临床CVG服务的实际价值、障碍和机遇提供了见解。我们临床CVG服务的建立不仅提高了患者护理水平，还通过与领域专家的合作展示了其可扩展性。
