Dr. Ameet Sattur, Consultant Interventional Cardiologist, HCG Suchirayu Hospital Hubli
Cardiovascular Disease (CVD) refers to a group of conditions that affect the heart and blood vessels, such as coronary artery disease, hypertension, heart failure, and stroke. Although lifestyle factors such as diet, exercise, and smoking are crucial in the development of CVD, genetics and genomics also play a significant role in the disease’s pathogenesis.
Genetics refers to the study of individual genes and their impact on health and disease. Genomics, on the other hand, is a broader field that investigates how all the genes in an individual’s DNA interact with each other and with the environment. Advances in genetics and genomics have revolutionised our understanding of CVD and are helping to pave the way for new and more effective treatments.
How Genetics And Genomics Are Used To Study CVD
Identifying risks through genetic variants: One of the primary ways genetics and genomics are used to study CVD is through genome-wide association studies (GWAS). GWAS is a method that analyzes the entire genome of a large population to identify genetic variations that may increase or decrease the risk of developing a specific disease. In 2018, a GWAS discovered a new genetic variant linked to a higher risk of developing coronary artery disease. This variant was found to regulate the production of an enzyme that contributes to inflammation and atherosclerosis, a condition characterized by the accumulation of fatty deposits in the arteries, which can lead to stroke or heart attack.
Developing personalised medicine: Genetics and genomics are also crucial in the advancement of personalized medicine for CVD. This approach involves considering an individual’s genetic profile, lifestyle factors, and other clinical characteristics to customize treatments for that person. By understanding a person’s genetic predisposition to CVD, doctors can develop personalized prevention and treatment plans that are more effective and have fewer adverse side effects.
One of the most exciting areas of personalised medicine in CVD is the use of genetic testing to identify rare genetic mutations that cause inherited forms of the disease. These mutations, which are often passed down through families, can cause CVD at a much younger age than is typical for the general population. Identifying these mutations through genetic testing can help doctors diagnose CVD earlier and develop personalised treatment plans that are more effective in managing the disease.
Gene therapy: Genetics and genomics not only aid in understanding CVD, but they also have a significant impact on the development of new treatments. Gene therapy is a promising area of research in CVD, particularly for inherited forms of the disease. The technique involves introducing healthy copies of a defective gene into the body to replace or repair the defective gene, and early-stage clinical trials have shown promise in treating heart disease.
New drug treatments: Another area of CVD research that is benefitting from genetics and genomics is the development of new drug treatments. By understanding the genetic and genomic mechanisms that underlie CVD, researchers can identify new drug targets and develop more effective treatments. For example, a drug called evolocumab, which targets a specific gene involved in cholesterol metabolism, has been shown to reduce the risk of heart attack and stroke in high-risk patients.
Genetics and genomics have revolutionized our understanding and treatment of CVD, providing personalized medicine, gene therapy, and innovative drug treatments that enhance patient outcomes and reduce the impact of CVD. With appropriate regulation and oversight, genetics and genomics hold great potential for uncovering novel complexities in CVD and developing effective treatment strategies. For more information on the vital role of genetics and genomics in your treatment plan, please speak to a cardiologist.