Heart disease. Can genetic counselling and testing help?

Genetic health counselling is soon going to be the future of proactive health.

The reason is quite simple. Genes are the building blocks of any living being and they control how the body performs it various functions. One such crucial functioning that genes control is that of the heart. From the strength of blood vessels to the way cells in the cardiovascular system communicate are all controlled by genes. Therefore, an individual’s risk for heart disease is influenced in many ways by genetics. The likelihood of developing heart disease can be affected by a genetic variation in a single gene or many genes. For example, a genetic mutation (variation) can change the way in which a protein functions and therefore the cholesterol is processed differently. Various kinds of heart disease can be passed down through generations of a family. A few of the heart diseases are caused by just one or few genetic changes, yet can have a big effect in causing the disease. These conditions are known as monogenic conditions. Some of these conditions include Long QT syndrome and hypertrophic cardiopmyopathy. The more common cases of heart disease are caused by genetic changes in many different genes, known as poygenic conditions.

Close to about 30% of heart diseases can be related to genetic factors.

When and why should you opt for genetic counselling?

With the current progress in medical science, it is still not possible to physically change or fix mutations to reduce your risk of heart disease. In such a situation, when a family member is diagnosed with heart disease other family members must be encouraged to undergo screening for risk factors and to identify the onset of any early stage of the disease. When the risk is identified, the individual can take precautionary measures and ensure that they lead a healthy lifestyle and monitor their heart condition on a regular basis. Genetic testing normally follows a genetic counselling session. Almost anyone can opt for genetic counselling and understand the process. However, if you have had anyone in your family, your parents, uncles, aunts or grandparents who have had a heart condition, it is highly advisable for you to undertake a genetic counselling session.

Based on the results of the counselling session, you might be suggested to go for a genetic screening test. During the counselling session, the genetic counsellor will take down your personal health history, family health history and lifestyle choices. Any kind of prior tests done, any medications being followed regularly or occurrence of heart ailments will be recorded. Based on the information provided during the counselling session, the genetic counsellor will assess you risk and let you know, if you have a higher susceptibility for a heart condition and recommend an appropriate genetic test. If you do have a higher risk, a genetic test can help you understand your risk with much more certainty. The genetic counsellor will conduct a post-test genetic counselling session. and help you understand your report and guide you on next steps. This could include advisory on whether you need to discuss your report with your Doctor.

To know more about what a genetic heart counselling involves and how a genetic test is done, please reach out to us at

Genetic Testing Helps Identify Inherited Heart Condition

Genetic Testing for Inherited Heart Disease

Kristen Criss, aged 38 from Riverside, California, was always battling health issues like arrhythmias or irregular heartbeats triggered by electrical malfunctions in the heart. When her heart was not once but eight times shocked back into a normal rhythm while pregnant, she was determined to know the exact cause of this. After all, her mother and sister had passed away due to a heart condition, while her father had succumbed to complications from a stroke. “Genetic Testing for Inherited Heart Disease

Criss was determined to find the reason behind the heart-related complications, and hence recently took a genetic test. The test revealed that she is suffering from hypertrophic cardiomyopathy (HCM), the same condition that took the life of her mother and sister at ages 40 and 33, respectively. She also learned that arrhythmia is a symptom of HCM, a rare condition associated with sudden cardiac death. This condition occurs when heart muscle cells enlarge and in turn cause the walls of the ventricles to thicken. Once the ventricle walls are thickened, blood flow gets blocked.

Then, in February 2018, Criss was at a high risk of cardiac arrest due to HCM. So, the doctors implanted a cardioverter defibrillator under her skin. The cardioverter defibrillator is a small device that shocks the heart back into a normal rhythm when it starts to beat irregularly.

Knowing that three members of the same family suffered from the same condition, Criss was frightened for her children – daughter Sariah and sons Braxton and Avery. Were they at high risk for HCM? Or like her, did they have HCM? To seek answers to her questions, Criss arranged genetic tests for her kids. All three were tested negative for the genetic mutation related to HCM. The good news was celebrated with some ice cream and joyful smiles.

“The disease literally stops with me,” Criss said.

Kristen’s experience goes on to show the power of genetic testing. Most people around the world are still unaware of the more than 6000 genetic disorders and how they can impact our lives. Hence, it’s essential to seek genetic counselling to understand our risk for genetic disorders. You can seek genetic consultation in India at truGeny. The healthcare company not only offers genetic counselling, but also genetic tests to determine your risk for cancer and cardiovascular diseases. “Genetic Testing for Inherited Heart Disease