Do you there are over 7000 rare diseases in the world that are linked to your genes? Or let us just say, understanding your genes right from the beginning can help in preventing rare genetic diseases and disorders. Thalassemia, Hemophilia, ovarian cancer, colorectal cancer, etc. are some of the common rare diseases. There is a genetic predisposition of a hereditary disorder that can be identified beforehand and prevented. Dr. Aparna Dhar, HOD of Medical Genetics and Genetic Counselling at CŌRE Diagnostics says that genetic testing is effective in predicting the risk so that the person can exercise preventive care and get benefited.
What is a genetic test?
This is a laboratory test that identifies changes in genes, proteins and chromosomes. This test helps in ruling out the possibilities of carrying or passing a genetic disorder. To conduct this test, the doctor takes samples of blood, skin, hair or other tissues that have DNA. The test is called buccal smear test and the sample is sent to the lab for testing and finding if any change is detected in DNA, proteins or chromosomes. After that, the genetic disorder is identified.
This test should only be taken by a doctor who is specialized in genetics. Not any and every doctor can read the reports and convey the right observations. Also, if the doctors inform you about genetic changes, you should also consult them regarding measures for prevention. Visiting a genetic counsellor is the best idea. Follow all the guidelines laid by them to reduce the possibility of a rare genetic disorder or disease.
What are The Benefits of Genetic Testing?
Listed down below are some of the genetic testing benefits:
- If you have a disease running in the family, genetic testing can analyze the chances of you getting it
- It can allow profiling of the disease that you are at risk
- It can tell you the health risks due to the genes you share with your family
- It can help in finding out shared environmental factors with the family and how you can stay safe from the condition(s)
There are many benefits of genetic testing still not many people are aware of this testing method. This is because only a genetic expert can recommend this test and it is challenging to interpret the findings and explain them to you. The results aren’t straightforward as other health tests and therefore, it takes time to analyse and interpret. Family history and medical history are considered when conducting this test.
While positive results mean that there is a certain change in your genes, chromosomes or DNA, it is a tedious process to identify the potential risk. However, this may not predict how severe the change can be for your health. A genetic test can only warn you about the coming storm but cannot tell how dangerous it is going to be.
Apart from positive and negative, your test results may also come uninformative which is due to polymorphisms or gene mutations that occur naturally. It becomes confusing to know if the mutation is due to a disease or just a natural phenomenon. If you happen to get tested, make sure to get it from a certified laboratory and by a specialized doctor.
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