Clinical cardiology
From Genomics to Precision Cardiology: A Comprehensive Review of Clinical Applications and Challenges in Cardiovascular Diseases
By Mohsen-Pour N, Esmaeili S, Feyzi A and 3 others.
Abstract
Background
Genomic cardiology is an emerging field integrating genetic, molecular, imaging, and digital health data to improve cardiovascular disease (CVD) prevention, diagnosis, and treatment. The genetic architecture of CVD encompasses rare, high-impact variants as well as polygenic susceptibility, both of which influence disease risk, severity, and clinical outcomes. Hypothesis: Integration of genomic information, including rare variants and polygenic risk scores (PRS), with clinical, imaging, biomarker, and artificial intelligence (AI)-based approaches may enhance personalized cardiovascular risk stratification and therapeutic decision-making.
Methods
This review summarizes current applications and emerging developments in genomic cardiology, including whole-genome and whole-exome sequencing, multigene panels, structural variant detection, PRS, multi-omics integration, and AI-assisted risk prediction. Current challenges and emerging therapeutic approaches, including RNA-based therapies and gene editing, are also discussed.