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Genetic testing aims to detect certain mutations in a person’s genes.

The current population of India stands at 1.35 billion. The incidence of cancer in India is 70-90 per 100,000 population and cancer prevalence is established to be around 25,00,000(2.5 million) with over 800,000 new cases and 5,50,000 deaths occurring each year. More than 70% of the cases present in advanced stage account for poor survival and high mortality. About 6% of all deaths in India are due to cancers and contribute to 8% of global cancer mortality.

According to Indian Council of Medical Research (ICMR) data on site-specific cancer burden, in males, the most common ones are cancers of mouth/pharynx, esophagus, stomach, lung/bronchi while in case of females, the common sites for cancers are cervix, breast, mouth/oropharynx and esophagus.

These statistics are not to scare you! There is a pleasing news at the end of this article. Read further to know more and sigh in relief.

First of all, let’s talk about what is cancer and what causes this horrifying disease. In our human body, all the cells have a definite lifetime, which may range from a few hours to several years. New cells replace the dying cells and the body keeps regenerating itself. When cell growth goes out of control due to some abnormality, cancer is caused.

But what causes these alterations? The reasons lie in the genes. We are born with a copy of a gene that differs from individual to individual. These differences do not cause any apparent harm, rather helps in our evolution. But certain drastic changes in genetic code, the mutations might result in harm and lack of certain functionality. These gene mutations can be divided into two – Gene mutations you are born with which you have inherited from your parents; and gene mutations that occur after birth. These mutations are caused due to lifestyle habits such as smoking, radiation, viruses, obesity, hormonal changes, lack of exercise etc. Gene mutations occur frequently during normal cell growth. However, cells contain a mechanism that recognizes when a mistake occurs and repairs the mistake. Occasionally, a mistake is missed, this is when cancer is caused.

Genomics for Cancer detection

Genetic testing aims to detect certain mutations in a person’s genes. With the advancement of techniques, we are coming to the age of highly detailed, specific and cost-effective personalized testing of one’s genes to detect abnormalities in the individual.

Whole Genome Sequencing (WGS) is the process of determining the complete DNA sequence of an individual’s genome at a single time. Confused? Well, in layman’s terms, Genome sequencing is figuring out the order of DNA nucleotides, or bases, in a genome—the order of As, Cs, Gs, and Ts that make up an organism’s DNA. The human genome is made up of over 3 billion of these genetic letters.

                                     

Next Generation Sequencing(NGS) is a highly advanced technique to perform WGS which combines sophisticated biomedical chemistry and imaging with advanced bio-informatics to index and analyze a genome. The techniques of NGS can be used to examine the 3 billion base pairs that comprise the whole human genome. The resulting data help to identify disease factors and are proving to be invaluable in informing treatment decisions and prevention strategies.

Phew! After consuming all these biological and technical information, who should opt for a predictive genetic testing? Well, it should definitely be opted by someone with a strong family history to a certain type of cancer or a person with a flamboyant lifestyle to check if there is any significant mutation that increases their risk of the disease. It may help them to detect cancer early through periodic screening and one may also take steps to lower the risk of the disease.

This is where PatientMD comes to your rescue. PatientMD will help you or your family/friend through the entire process. As the first step, when an individual is making an informed decision after risk assessment and genetic counselling, an informed consent duly signed by the candidate or appropriate representative will be required. Next, the specimen will be collected through a clinic conveniently located for you. It may range from a blood sample to biopsy sample as required for the cases. In the case of an apparently healthy individual, it will be blood samples only.

After the DNA extraction, a series of tests are performed to check if you have inherited any genes that may cause cancer and a report is generated. PatientMD’s genetic counselors appointed physicians will help you interpret the results and guide you on what to do next.

Cancer is a devastating disease and takes a toll on the patient as well as his family physically, mentally and financially. Awareness about the symptoms based on assessed risk and early detection of cancer symptoms not only reduces the cost of therapy, but also relieves one from suffering by ensuring a higher chance of cure in a little time! The goal of PatientMD is to make this process as smooth and affordable as possible making your lives easier and strike off one stress issue from your life!