Genetically bound

Genetically bound

A family history of heart disease is a risk factor that you can’t directly control but it can have a bearing on your life, writes Dr Vedam Ramprasad

A global rise in cardiovascular diseases has been witnessed over the years. The deadly disease has been claiming the lives of both younger and healthier individuals. Since cardiovascular diseases exist in various types and affect people in different manners, there has been a sudden cause for concern recently. According to the National Crime Records Bureau (NCRB), India witnessed a 53% increase in deaths due to heart attacks from 2014 to 2019, with younger age groups also bearing the brunt of the disease in recent times. So, the next question that arises is, if there is a possibility of predicting and taking necessary steps to prevent a heart attack?  

Family history

Most healthcare professionals use family history as a way of evaluating the possible risk of individuals contracting chronic diseases. Depending on which, various steps are taken to prevent the same from affecting your health. Inherited diseases mostly exist in your DNA as a single gene or multiple genes influenced by various environmental factors. 

People with cardiovascular diseases are at the highest risk of contracting it if anyone in their family has had a history of suffering from one. But the same is not always true if the person is following a healthy lifestyle which can lower the risk of suffering from the same heart disease by almost 46%.

So why is genetic composition important in determining susceptibility to heart diseases? Everyone is aware of how genetics play an important role while being susceptible to certain diseases. People with a genetic correlation have a higher chance of contracting it. Going deeper into the genetic structures that exist within us, it is seen that diseases like coronary artery disease (CAD) or diabetes cannot be diagnosed by examining a single gene or a group of genes since the genetic code goes through multiple changes in different parts, making the patient vulnerable to it only when these changes come together.

Moreover, environmental factors also influence the development of these diseases in the body. Leading a sedentary lifestyle which includes smoking, hypertension, excessive weight, consuming cholesterol-rich foods daily and lack of exercise can also increase the chances of developing heart disease making it even more difficult to identify the potential risks heart diseases can cause. This is why it is the need of the hour to determine the changes made in the genetic code that will help us in assessing the actual risk that heart diseases possess.

Diagnosis through
genetic testing

Thanks to advancements in research and development, scientists have found a way to determine the risk by comparing identified genomic variants caused due to various complex diseases. With the use of statistics and the huge amounts of genomic data available which have been collected depending on various factors like ethnicity, age, race, sex, family history, etc., the various variants that exist in a person’s DNA can now help evaluate a Polygenic Risk Score (PRS) which essentially assists in calculating the risk involved for each of the diseases depending on its mutations. With good specificity, PRS is a big breakthrough in the preventive healthcare industry. 

Based on the evaluated scores, individuals are classified into high, medium and average sections and are given various treatments, prescriptions, and routines to help lower the risk of developing or contracting the disease over time.

Though it is not a diagnostic test, it is a screening test and can benefit healthcare practitioners in identifying high-risk individuals. Many private players have already started implementing these PRS across several common diseases like CAD, breast cancer etc.

With time, PRS is envisioned to be widely used as a tool to assist healthcare professionals in making preventive healthcare more efficient and saving lives by effectively taking precautionary measures to help us live a healthier and happier life.

(The author is a scientist.)

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