Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective

Purpose: 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.

Methods: 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.

Results: 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 n = 51, predictive testing n = 10, familial segregation analysis n = 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.

Conclusion: 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.