Cardiovascular genomics: the advanced frontier of CVD management
Abstract
Cardiovascular genomics: the advanced frontier of CVD management
Prof. Dr. Prabir Kumar Das FCPS, MD, FACC,FCSI
Former HOD, Dept. of Cardiology, Ctg. Medical College & Secretary General, Chattogram Heart Foundation
Abstract
Cardiovascular genomics are specialized field that explore the role of genetics in the development and progression of cardiovascular diseases. About 10-15% of all non communicable diseases are familial and inherited conditions following Mandolin or monogenic inheritance pattern. These includes congenital heart disease, aortic and arterial disease, inherited cardiomyopathies, inherited arrhythmias and cardiac conduction defects, atrial fibrillation, familial hypercholesterolemia, systemic hypertension, pulmonary hypertension and some rare CV diseases. Understanding the genetic basis of rare and common CVDs has advanced substantially over the last 25 years. With the advent of sequencing of human genome by next generation sequencing(NGS) technique in 2000,it emerged as a preferred method of complete elucidation of genetic cause of single gene disorders .CV genomic medicine offers opportunity to review and organize management and prevention of wide ranging inherited and familial CV conditions..It encompasses personalized medicine targeting specific individuals; precision medicine targeting specific molecular disease and evidence-based medicine with most upto date top validated evidences. Several NGS based diagnostic multi-gene panels now available for confirmation of disease causing specific gene mutation or pathogenic variants in major inherited CV conditions. Genomic laboratories offer this service and developed specific genotype-phenotype databases. High risk screening allows earlier diagnosis, risk stratification, aggressive treatment and improved outcome. DNA-editing technology through application of CRISPR-Cas9 can be used to edit genes within living organisms enabling correction of monogenic conditions. For polygenic CVD whole genome sequencing at birth may allow primordial prevention with assessment of genetic determinants of lifetime risk for CVD. At present use of genomics has gone beyond screening, diagnosis and risk prediction into therapeutics. Evaluating genomic information now forms part of routine clinical workflow for inherited cardiac conditions in improving diagnostic decision-making, screening of relatives, and guiding decisions on therapy.
