The human heart, a marvel that beats flawlessly every second of our lives, can unleash a cascade of dangers if it falters. Diseases of the heart and blood vessels, called cardiovascular diseases (CVD), stand as the leading global cause of death. it claims over 17 million lives annually and is projected to rise to 23.4 million by 2030 [1]. 

 

Shockingly, India accounts for one fifth of global CVD deaths, impacting our younger population a decade earlier than in the West [2]. CVD in India affects around 32 million individuals, influenced by both genetic and social factors. It results in the loss of 15 million disease-adjusted life years, with a striking 52% coronary artery disease-related death rate in those under 70, compared to 22% in Western countries [3]. 

 

Cardiovascular diseases have many types, each with its own devastating consequences. Coronary artery disease (CAD) can result from oxygen deprivation of the heart due to blocked blood vessels, causing chest pain and heart attacks. Blockages in vessels to other parts of the body can lead to numbness and serious tissue damage. Problems with heart muscles may drive irregular heartbeats or arrhythmias, with symptoms like palpitations and fainting. Strokes, caused by interrupted blood supply to the brain, bring severe neurological difficulties. 

 

Any of these can pose a risk of death without prompt medical help. Lifestyle factors like smoking, and medical conditions like diabetes can push someone to develop heart disease, but one can also inherit it from their family. In fact, approximately 40% of the risk for CVD lies in the genes we inherit [4].

 

While the numbers may look scary, grabbing this condition by its neck and living a healthy, adventurous life has never been more possible than now, the era of modern genomics. Though symptoms may show up later, CVD develops gradually throughout one’s life. Catching risk factors for CVD early on can help us slow its progress or start treatment much before it can affect our lives. Our genetic blueprint carries the earliest signs of risk for CVD. 

 

Breakthrough techniques such as next generation sequencing (NGS) now allow us to rapidly sequence a person’s entire genetic complement, and it has found many genetic variations predisposing individuals to CVDs. Polygenic cardiovascular conditions result when multiple genes contribute to a condition. For instance, multiple genes regulating lipid metabolism have been associated with CAD [5]. But many times, conditions with high risk of adverse outcomes or sudden death arise from single gene mutations, such as those related to familial hypercholesterolemia (LDLR), or Long QT syndrome (KCNQ1) [4]. Monogenic disorders present clear therapeutic targets, as the direct link between the gene and the disease makes it easier to predict how the disease will manifest.

 

Genetic screening tests based on NGS, like the Genomic Health Initiative offered by Strand, can scan the entire genome of an individual to spot such harmful mutations. If a disease causing mutation is found, doctors can tailor care plans by considering personal and family medical histories. They may suggest preemptive lifestyle changes such as avoiding heavy exercise or improving diet. They can recommend regular tests like EKGs to catch any signs of disease, or medication such as beta blockers or statins to reduce the risk. Testing family members also would enable early preventive care for those at risk. Moreover, a thorough genetic test could also predict what drugs and treatments may work effectively, enabling personalized treatment plans. 

 

Genetic screening for cardiovascular disorders is a cutting edge tool that can save lives through early detection, and targeted treatment. It heralds the shift towards precision medicine, where individual genetic profiles guide better outcomes and enhance overall cardiovascular health.

 

Bibliography

1. https://www.labmed.theclinics.com/article/S0272-2712(12)00027-3/fulltext
2. Kumar, A. S., & Sinha, N. (2020). Cardiovascular disease in India: a 360 degree overview. medical journal armed forces india, 76(1), 1-3.
3. Jayashree, S., Arindam, M., & Vijay, K. V. (2015). Genetic epidemiology of coronary artery disease: an Asian Indian perspective. Journal of genetics, 94, 539-549.
4. Dijkstra, T., van den Heuvel, L. M., van Tintelen, J. P., van der Werf, C., van Langen, I. M., & Christiaans, I. (2023). Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population. European Journal of Human Genetics, 1-6.
5. https://www.jpgmonline.com/article.asp?issn=0022-3859;year=2013;volume=59;issue=1;spage=30;epage=41;aulast=Pranavchand