World DNA Day 2021: Predicting the genetic risk of life-threatening diseases

Genetic tests can assess your risk of developing Coronary Artery Disease due to genetic mutations allowing you to take preventive action early.

Your genes are the key to unlocking a lot about your future health risks. Read on to know all about this from our expert on this World DNA Day.

Health and wellness is on the radar these days - and rightly so. Ignoring it could derail life as we know it in the face of lifestyle diseases like diabetes or life-threatening conditions like cancer and heart disease. Being proactive about managing your health can help you lower your risk, prevent some health problems, and allow you to plan ahead. But how do you do this? Today, on the occasion of World DNA Day, let us see if you could predict your genetic risk of a life-threatening condition or metabolic disorders, heart problems, cancer, and more with a simple saliva test? The future of medicine and preventive care is here. And we are at the cusp of something big that could change the way we manage our health risks and medical treatment in the years ahead.

The term 'hereditary condition' or the more ubiquitous 'it's in your genes' gets tossed about in casual conversation for things like an inherited health problem or the way we look, but what we don't always realize is that our genes can unlock much more about our future health risks too. From heart disease to cancer to the way your body responds to life-saving drugs, your genes might hold the key.


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India has a young population, but we are also genetically predisposed to certain conditions, making us more at risk than other nationalities for things like cardiovascular issues - the single biggest cause of death in India - at younger ages. According to the WHO (World Health Organization), 1 in 10 Indians will have cancer in their lifetimes. We have the second highest number of diabetics in the world. Air pollution, tobacco use, and occupational risks have given us a higher burden of chronic respiratory diseases than we should have. Something has to change in how we approach healthcare and disease prevention. On this World DNA Day, let's look closer at our leading challenge - cardiac health - to understand our options better.

India's Battle with Coronary Artery Disease

As an Indian, your risk of Coronary Artery Disease (CAD) is about 3-4 times higher than a Caucasian's. With rising stress levels, comorbidities, and lifestyle issues compounding the problem, 50 per cent of all heart attacks in men strike those under 50. Even more shocking, 25 per cent of all cases among men are in those under 40. Women are also at risk, especially as they grow older - according to the Longitudinal Ageing Study in India (LASI) Wave 1 Report, more women over 45 than men have a diagnosed cardiovascular condition.

Genetic tests can assess your risk of developing Coronary Artery Disease due to genetic mutations allowing you to take preventive action early. Anyone can get their CAD PRS (polygenic risk score) to help them make corrective lifestyle changes and/or schedule investigations to lower the risk of adverse events in the future. The case for this becomes especially strong if the person has a familial history of CAD, comorbidities like diabetes, or elevated lifestyle risk. Individuals who want to have a proactive approach towards their heart health can also consider opting for such a test.


Similar screening for inherited cancer risk or carrier screening for genetic defects that can be passed to offspring is also seeing uptake from a growing number of informed consumers.

The Cancer Genetic Test

The 'cancer genetic test', which is relatively well known, was the first widely reported step towards using personal genomics for individuals to proactively manage their health. On this World DNA Day, let us see how it works. We know that breast cancer risk goes up to as much as 70% by age 80 if you've inherited a mutation in your BRCA1 or BRCA2 gene. It also corresponds to women getting breast cancer at a younger age and having cancer in both the breasts. Women at high risk can request counselling for themselves and their family members, get screened for cancer more often, and could even opt for preventive (prophylactic) surgery if required. Early detection can drastically alter survival rates for certain cancers; to as high as 98% (5-year survival rate) in the case of breast cancer.

Genetic analysis revealed that four members from Ajay's (name changed) family had a specific mutation that made them predisposed to getting polyps later in life. Personal genomic profiling allowed them to receive early counselling and ensured they schedule regular colonoscopies to avoid adverse events. For conditions that are expensive to treat, knowing your personal risk score will allow you to even plan your insurance and finances ahead of time to prevent last-minute roadblocks or financial crises.


Your genes could also dictate how you metabolize a certain drug or determine the risk of having an adverse reaction to it. For instance, Asians are known to have more adverse events - whether it is skin reactions or lowered drug efficacy - for some of the most used drugs today, including warfarin, carbamazepine, allopurinol, and clopidogrel, to name a few. In some instances, as with the use of tacrolimus (an anti-rejection drug used in the case of organ transplants to reduce the risk of rejection of the new organ), pharmacogenetics could help provide vital information on the dosing based on the patient's ability to metabolize the drug.

With life-threatening conditions, time is of the essence. Drug-response tests that assess your most probable response to a certain medication based on your genetic makeup can help avoid the trial and error that plagues treatment for conditions like tuberculosis. It can also guide dosage levels based on your genetic profile and suggest how you are likely to metabolize the medicine.

Arming doctors with this crucial extra piece of information could mean the difference between life and death for some and cut the prolonged anxiety and uncertainty for others. For instance, the case of Sachin (name changed) was showing resistance to drugs used to treat his cancer, making treatment a challenge. A drug-response assessment was able to help direct the treatment regimen and allowed doctors to alter therapy at the right stage and more importantly - in time. Such reports could become a life-saving norm in the near future.


Unlike diagnostic tests which tell you whether or not you have an existing health indicator that is alarming or informs you of an undiagnosed medical condition, polygenic scores are like an early warning system. Your PRS indicates the probability of (or risk of) developing a particular health problem so that you can take corrective actions, control other risk factors, and even plan your finances to cater for potential expenses should these problems arise.


As experts explain, having a high-risk score does not mean you have a particular health issue nor does it mean you will get it. It is a tool to help you plan, based on the insights, on the possibility of future health conditions you might develop.

Personal genomics is a powerful preventive healthcare tool that the world is waking up to, one that is backed by in-depth research by the finest minds in the field. It allows each of us the opportunity to take charge of our health. The clincher -- the sample collection often involves nothing more than a DNA sample taken via spitting in a collection tube or a simple blood draw, making this a quick and easy process for results that have far-reaching implications for your health. With cutting-edge technology shearing costs, these tests are now much more accessible, a reality that seemed like a distant dream even a decade ago. The future, it appears, is here. The question is are you ready to take charge of your health and stop leaving things to chance?

(This article is authored by Dr Vedam Ramprasad, CEO, MedGenome India)

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