Category : Genetics
Have you ever wondered why some diseases run in families? Or why do two people with the same illness respond differently to the same treatment? The answer often lies in our genes.
What are genes?
Genes are like tiny instruction manuals inside our bodies. Back bone of genes is deoxyribonucleic acid (DNA). They are passed down by parents to offsprings and decide things like our eye color, height, even risk of certain diseases and so on. Every individual carry thousands of genes and most of the time, they work perfectly. But sometimes, a small change in a gene (called a mutation, insertion or deletion) can increase the chance of developing a health condition.
What is medical genetics?
Medical genetics is the branch of medicine that studies how variations in genes contribute to health and disease. From rare inherited disorders to common conditions like diabetes, cardiovascular disease, and cancer, genetics plays a critical role in shaping disease risk, progression, and response to treatment.
Genes are segments of DNA that provide instructions for making proteins the molecules that perform most biological functions. When a gene functions normally, it helps maintain health. When it carries a mutation or variation, it may disrupt biological processes and contribute to disease.
Why Is medical genetics important?
Medical genetics helps doctors understand how these gene changes affect health. This knowledge can help diagnose diseases earlier, explain why a disease is happening, guide doctors in choosing the right treatment, help families understand their future health risks. It is not about predicting destiny, it is about understanding risk and making informed choices. Physicians or clinicians decide when genetic testing is necessary and today, we have advanced equipment’s and technologies to read and understand the entire genetic make up (all genes) of an individual within 24-72 hours.
What Is Genetic Testing?
Genetic testing is usually done using a small blood sample or proper biological source. It looks for changes in specific genes. Doctors may recommend genetic testing if a disease runs strongly in the family, a person is suspicious to develop cancer or in patients with cancer to choose proper treatment, in case of repeated pregnancy losses or if a child is showing signs of a genetic condition and so on.
What Is genetic counseling?
Learning about genetic risk can feel overwhelming. That’s why genetic counselors are important. They explain what the test means, help families understand risks, discuss options for monitoring or prevention and provide emotional support. Overall goal is not to create fear but to provide clarity and confidence.
Myths about genetics and testing
Many people think that if they have genetic variation, they will get the disease, but it is not always true. Genes increase risk, but lifestyle, environment, and regular health check-ups also matter a lot. Another myth is that genetic diseases are always inherited. Though genes are inherent many genetic diseases happen due to changes that occur during life. A major misconception is that genetic testing is only for wealthy people. Testing is becoming more affordable and accessible. Government and institutional programs are expanding access.
Why does awareness about medical genetics matter?
Understanding genetics helps families to make informed healthcare decisions, seek early screening, avoid unnecessary panic, support affected family members
In summary, knowledge reduces fear and let’s celebrate the medical genetics awareness week with the hope of better future.
By
Dr. Suvilesh Kanve Nagaraj
Associate Professor,
DBT Ramalingaswami Re-entry Fellow,
Department of Medical Genetics
JSS Hospital, Mysuru.