Sudden cardiac death (SCD) remains a significant public health challenge, often occurring without prior symptoms and disproportionately affecting younger individuals, leaving families profoundly impacted. Emerging evidence highlights a substantial genetic underpinning, emphasizing the crucial role of familial evaluation and precision medicine in mitigating risk and improving outcomes.
This talk addresses recent advances in precision medicine approaches to SCD. We will explore how genetic testing facilitates early identification of at-risk individuals, enabling targeted preventive interventions, lifestyle modifications, and timely clinical management. With availability of molecular autopsy services since 2017, cascade genetic testings are offered to family members if pathogenic variants are identified in SCD victims. However, there have been a low compliance to clinical screening attended by the affected first-degree relatives. It could be due to a lack of family awareness regarding the potential inheritance of diseases and availability of cardiovascular screening service. Combining the yield of clinical screening in a multidisciplinary setting, the yield of inheritable cardiovascular condition can be up to 45%. The phenotype information is also crucial in assisting with the pathogenicity determination of identified SCD genetic variants.
The talk will illustrate how personalized risk stratification and tailored clinical interventions significantly reduce the burden and recurrence of sudden cardiac death within families. It is important as broader public health implications in reducing SCD incidence. This presentation seeks to enhance clinicians' understanding of precision medicine's transformative potential in familial evaluation, empowering healthcare professionals to deliver personalized, proactive cardiac care, and understanding of the need for multidisciplinary effort in service deliverance.
