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Beyond the Surface - Exploring the Role of Genetics in Health Check-ups

Health check-ups play a vital role in our overall well-being, providing valuable insights into our health status and potential risks. In this blog, we’ll delve into the realm of genetics and understand how genetic testing impacts the way we approach health check-ups, offering personalised insights and enhancing preventive healthcare.


Genetics plays a significant role in health check-ups and can provide valuable insights into an individual's predisposition to certain diseases or conditions. Here are some aspects of genetics in health check-ups:


1. Predictive genetic testing

Predictive genetic testing is a type of genetic testing that aims to predict an individual's risk of developing certain diseases or conditions later in life. It analyzes an individual's genetic information to identify specific genetic variants associated with increased susceptibility to certain health conditions


However, it's important to note that genetic risk is just one factor contributing to the overall risk, and other environmental and lifestyle factors also play a significant role. The Centre for disease control, USA has defined three conditions for genetic screening that have a significant impact on public health. These include:


Hereditary breast and ovarian cancer syndrome, Lynch syndrome (hereditary cancer syndrome) and familial hypercholesterolemia.  These disorders were suggested as an estimates 1-2% population may have a pathogenic or likely pathogenic variant in these genes even in the absence of overt family history, for which early detection and intervention, improves outcomes


2. Family History: Gathering information about an individual's family history is an important component of health check-ups. It helps identify any patterns of inherited diseases or conditions that may run in the family and informs the need for further genetic testing or monitoring.


3. Personalized Medicine: Genetic information obtained from health check-ups can guide personalized medical treatments. By analyzing an individual's genetic profile, doctors can determine the most effective medications, dosages, or treatment strategies tailored to a person's genetic makeup.


4. Disease Risk Assessment: Genetic testing can identify specific genetic variants associated with an increased risk of certain diseases such as cancer, cardiovascular disorders, or neurodegenerative conditions. This information helps individuals and their healthcare providers take proactive measures to manage their health and potentially prevent or detect diseases at an earlier stage.


5. Carrier Testing: Health check-ups may include carrier testing to identify if an individual carries a genetic mutation associated with certain inherited disorders. This information is particularly relevant for family planning, as it helps individuals make informed decisions about starting a family and may prompt discussions about potential risks and available options. The carrier frequency of Beta Thalassemia in India is around 3.3%, that is approximately 1 in 30 persons is a carrier of Beta Thalassemia. Similarly, Indian studies show 1 in 38 carrier frequency for SMA. Hence there is merit in screening these disorders even in the absence of family history.


6. Pharmacogenomics: Genetic information obtained from health check-ups can provide insights into how an individual's genes affect their response to medications. This field, known as pharmacogenomics, helps optimize drug selection and dosing, minimizing adverse effects and maximizing therapeutic benefits. This application of genetics in healthcare so far has been limited to certain anticancer drugs, anticoagulants in healthcare but is rapidly advancing.


7. Genetic Counseling: In cases where genetic testing reveals significant findings or potential risks, genetic counseling may be recommended. This is to provide support, education, and guidance to individuals and families, helping them understand and make informed decisions based on their genetic information.


It's important to note that genetic testing and its interpretation should be conducted under the guidance of healthcare professionals trained in genetics. They can help individuals understand the implications of their genetic information and make appropriate decisions regarding their health and well-being.


Potential benefits

Informed Decision-Making: Predictive genetic testing allows individuals to make more informed decisions about their health and take proactive measures to manage their risk. For example, if someone has an increased genetic risk for a certain cancer, they may choose to undergo more frequent screenings or adopt lifestyle changes to reduce modifiable risk factors


Identifying the cause of a genetic disorder in the family may help to connect with other support groups or follow possible new therapeutic clinical trials.




Predictive genetic testing can have psychological implications, as it provides information about an individual's future health risks. While some individuals may find the information empowering and use it to make positive changes, others may experience anxiety or stress. Genetic counseling is often recommended to help individuals understand and cope with the emotional and psychological aspects of the test results.


Predictive genetic testing has certain limitations. Genetic risk estimates are based on population data and may not accurately predict an individual's actual disease outcome. Additionally, not all genetic variants associated with disease risk have clear preventive or treatment strategies.  The results of some genetic tests are inconclusive. This means doctors may identify a variation in a gene, but not know what effect it may have.


Genetic testing is most useful when combined with other clinical and family history information, and its interpretation should be done by healthcare professionals trained in genetics

Medanta Medical Team
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