WHAT IS GENETIC TESTING?

Genetic testing involves examining your DNA, the blueprint of your life and the chemical database that carries instructions for your body’s functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease throughout your life span.

Although genetic testing can provide important information for diagnosing, treating and preventing illness, there are some limitations. For example, if you’re a healthy person, a positive result from genetic testing doesn’t always mean you will surely develop a disease. On the other hand, in some situations, a negative result doesn’t guarantee that you won’t have a certain disorder. It simply means, that your genes are a loaded gun, and your environment and lifestyle can pull the trigger.

 

Talking to our genomic expert i.e. a medical geneticist or a genetic counselor about how to control your lifestyle which does not allow to trigger (express/ activate) the genes, is what you will do with the results, andthis is an important step in the process of genetic testing.

DNA testing (gene testing) plays a vital role in assessing the risk of developing certain diseases as well as screening and sometimes helps in deciding the right medical treatment.

Diagnostic Testing

If you have symptoms of a disease that may be caused by genetic changes, sometimes called mutated genes, genetic testing can reveal if you have the suspected disorder. For example, genetic testing may be used to confirm a diagnosis of cardiovascular diseases, neurological diseases, inflammatory conditions, breast and ovarian cancer, CysticFibrosis or Huntington’s Disease.

Hereditary and predictive testing

If you have a family history (heredity) of a genetic condition, getting genetic testing done before you have any symptoms may show if you’re at risk of developing that condition. For example, this type of test may be useful for identifying your risk of certain types of cancers running in your family, Sickle Cell Anaemia or CysticFibrosis etc. An in-depth genetic screening test can detect genes associated with a wide variety of diseases and mutations and can identify your family members for the same condition.

Pharmacogenetics

This test helps in a particular health condition or disease where genetic test may help determine what medication and dosage will be most effective and beneficial for you. E.g. Metformin used in the treatment of Diabetes Mellitus, or the use of Clopidogrel(Plavix), a drug taken to prevent clots from forming inside a stent. Up to 30% of people have a gene variant that prevents their liver from activating the drug, putting them at increased risk for a clot-caused heart attack. A genetic test can tell whether a person has this gene variant.If you carry the variant, either the dose of clopidogrel must be raised, or you must be switched to a different antiplatelet agent, such as Ticagrelor [Brilinta]

Parenatal Testing

During pregnancy, this test can help in determining the risk of carrying a baby who has certain chromosomal conditions. It can also help detect neural tube defects and similar genetic conditions where it can help you make the best healthcare decisions before and after your child is born. at the time of pregnancy.

New-born screening

These types of tests are very common in the United States where they test the genes of the new-born babies for certain metabolic and genetic disorders that cause specific conditions. Such tests are becoming popular because if the results show the disorder, proper care and treatment can begin immediately in the right way.