Genes are the pieces of DNA that carry traits along generations, from parent to child. The color of your hair and eyes as well as your height are a product of the genes you have inherited from your parents. Mutations are changes in these genes, which can play an important role in developing a particular disease, especially cancer.

Is there a way to test for such mutations? Yes, there is! The recent hype around genetic testing comes from its ability to determine a particular mutation, which increases one’s susceptibility to develop a specific disease. If a disease, say cancer or diabetes, runs in your family, you might want to get yourself checked for it to assess your tendency to develop them during the course of your life.

Genetic testing can be most importantly used for the following four reasons.

  • Carrier Testing: Usually done by couples to determine if they carry any specific mutation that might be passed on to their baby (eg: cystic fibrosis, Tay-Sachs disease, sickle cell anemia).
  • Prenatal Screening: Usually used to diagnose any condition in an unborn baby (eg: Down’s syndrome).
  • Newborn Screening: Newborns are screened in case they have inherited any particular diseases (which may or may not have been passed down from parents).
  • Predictive Gene Testing: This type of testing is most commonly used to test for the risk of developing cancer.

While all these tests exist to determine one’s tendency to be diagnosed with a particular condition, it may not be a sure shot way. You may not be born with a particular mutation to develop a disease, but it is possible that such a mutation is encountered during the course of your lifetime due to several factors (environmental, nuclear, and occupational). Again, genetic testing is a coin with two sides.

If you take up a genetic procedure and test positive for a particular disease, it gives you the chance to make changes in your lifestyle and lower your risk for developing it in the future. You can also develop a screening plan for yourself with the help of your doctor. Your genetic test results can help your doctor prescribe medicines that might lower or even prevent the risk of that particular disease.

A positive result can have negative repercussions. A diagnosis for untreatable or incurable diseases might get you worried. The risk assessment may make you worry about minor symptoms which may not even be related to the disease.

Genetic testing is a good way to be informed about the risk for developing certain diseases and can help people make informed decisions about managing their health and lifestyle. It can also lead to increased worry and anxiety if the results are positive. The best way is to talk to your doctor or a genetic counselor who can guide you and assess if you really need to be tested for a particular genetic trait.

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