DNA sequencing sounds quite daunting, however, it is just the method used to identify the set of instructions every cell in your body adheres to in the form of DNA. Genes are made up by DNA, which is formed by a precise set of nucleotides. These include four bases — adenosine (A), thymine (T), guanine (G), and cytosine (C). DNA sequencing methods helped identify the genes present in an organism, advancing biomedical research. Genetic knowledge can be used in forensics, biotechnology, research, medical diagnosis and bioinformatics.

What is Genetic Sequencing?

Genetic sequencing is essentially a blueprint to your entire body. It can help find faulty genes that may be causing a genetic disorder. Doctors and scientists have been able to test for specific genes and detect mutations to particular genetic disorders like sickle cell disease, for years. However, in recent times they have been able to map out the entire genome of an individual. This includes about 20,000 genes, giving access to a lot of information about the person.

“Sequencing a gene is like reading a book one letter at a time to look for any spelling mistakes… We all have the same 20,000 genes, but we all have some spelling mistakes compared to one another,”

says Dr. David Miller.

Which Genetic Disorders can be detected?

Due to the high birth rate in India, the probability of children born with genetic disorders is much higher. Approximately, about half a million of children are born with genetic defects and about 21,000 are born with Down Syndrome, according to a study conducted at the Sri Ganga Ram Hospital, New Delhi. Approximately, 5200 infants are born every year with sickle cell disease. Genetic testing can also reveal the presence of aminoacid disorders such as hyperglycemia (high blood glucose), alkaptonuria, maple syrup disease and homocysinuria. It can also reveal the presence of haemophilia, which is a bleeding disorder. In order to determine the genetic disorder and personalised medicine needed for treatment, DNA sequencing is required. If you have a medical history of any debilitating diseases, it may be useful to undergo genetic testing.

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