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Journal of Rare Cardiovascular Diseases
ISSN: 2299-3711 (Print)
e-ISSN: 2300-5505 (Online)
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Pharmacogenomics in Precision Medicine: Bridging the Gap Between Genetic Insights and Clinical Practice
S. Yogeshwari
,  
V. Suryanarayanan
,  
M. Kavya
,  
Dr. K. Karthickeyan
,  
Dr Palani Shanmugasundaram
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Abstract

Pharmacogenomics (PGx) is transforming precision medicine by elucidating how genetic variability influences drug response, efficacy, and toxicity. Over the past decade, numerous pharmacogenomic implementation consortia, including the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG), have developed evidence-based guidelines for genotype-guided therapy. However, translation into clinical practice remains incomplete. Regulatory discrepancies between CPIC/DPWG guidelines and drug labeling, limited health system infrastructure, and disparities in global adoption continue to hinder clinical integration. This review synthesizes evidence from recent literature, including regulatory analyses, global implementation efforts, cost-effectiveness studies, and real-world clinical outcomes, to highlight progress and remaining challenges in bridging pharmacogenomic discoveries and clinical application. The review concludes with future directions, emphasizing harmonization of guidelines, policy alignment, data integration into electronic health records (EHRs), and equitable access to pharmacogenomic testing across healthcare systems worldwide.


Keywords
Pharmacogenomics, Precision Medicine, CPIC, DPWG, Genetic Testing, Drug Labeling, Clinical Implementation, Personalized Therapy
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Classification of Rare Cardiovascular Diseases anticoagulation atrial fibrillation atrial septal defect cardiomyopathy computed tomography congenital heart disease echocardiography electrocardiogram electrocardiography heart failure implantable cardioverter‑defibrillator magnetic resonance imaging pregnancy pulmonary arterial hypertension pulmonary hypertension rare cardiovascular disease rare disease right heart catheterization right ventricular failure
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