Earlier we didnt know why and how human being is different from a plant or animal or any other form of life. However in 1860 a clue was given by Sir Mendel, in which he mentioned that there are certain factors which are responsible for making a human different from plant and so on. And these characters were passed from one generation to the next. With the lack of communication at those times, it is not surprising that his work went unnoticed until the beginning of last century (around 1900) when another group of scientists rediscovered his findings and termed these factors as genes which are found to be made up of DNA (which is our hereditary material). This knowledge has revolutionized the biological science and medical science in particular.
As in English language we have 26 alphabets, which in different combination and arrangements form meaningful words and sentences, the language of DNA has got only 4 alphabets (Figure 1). It is the arrangement of these 4 alphabets in genes which is making a human being different from plant and plant from animal and so on.
The total number of combinations and arrangements of these four alphabets are estimated to be 3 billion (3.2 crores) in human body. Now if we are required to store this huge information say, in the form of a book, the volume becomes unmanageable. Thanks to the application of computer science, which has helped in systematic and convenient management of this voluminous information. Moreover the required information is accessible very easily. This has definitely reduced much of our effort and time.
This integration or this marriage between computer science and biological science can be termed as bioinformatics.
How bioinformatics is going to benefit the society at large?
Here it is interesting to know that in spite of individualistic characters and features the DNA of all human beings are similar to the extent of 99.8%. Or we can say that the DNA arrangements of human beings are varying only by 0.2% from person to person. That means it is this 0.2% variation that makes each individual unique.
To clarify this point let us take an example: one may like to spell SHIVA while other may prefer to spell it as SIVA. In these two words there is a difference in their spelling, which we refer to as variation. However in this case though both the spelling is different from each other but both are acceptable. But always such variations are not acceptable; some of these variations in the DNA may be responsible for a disease in an individual.
This variation that we are talking about at the genetic or DNA level can be of two types: polymorphism and mutation. When the variation present has subtle effects and is found in at least 1% of the population, we refer it as polymorphism. However when the variation has deleterious effects and is present in less than 1% of the population, it is called as mutation. This is concept can be illustrated with a simple analogy as shown below (Figure 2):
The way our body responds to treatments depends on the differences in the individuals DNA. Because a change in the DNA arrangement may make an individual susceptible to a disease or it may affect the severity of the illness. For example, variation in a gene named chemokine receptor gene makes a person resistant to HIV and AIDS.
Thus we can understand the importance of studying these variations or differences as it helps in diagnostics. Doctors can use patients sample to determine the pattern of variation and from that predict how patients are likely to respond to a particular medicine.
Now it will be possible for doctors to give designers treatment and personalized medicines to patients depending on their DNA arrangement and severity of the illness. This sort of personalized treatment has been possible only with the application of bioinformatics. This approach for treatment for any disease will definitely be more accurate and effective than the traditional approach. In near future a day may perhaps come when every individual will carry his or her DNA information card while going to a doctor. And then the doctor will be in a position to provide more accurate and effective personalized medicine according to his DNA pattern, extent of illness, etc.
Generally hereditary genetic diseases are passed on from one generation to next. For example age specific onset of mental imbalance, diabetes, arthritis, etc. are generally hereditary diseases. Before couples get married they must consult doctors with their DNA information card to check their genetic compatibility such that their next generation is healthy and free from certain hereditary diseases.
What all-social problems that may arise on revealing of individual DNA information?
DNA information will be helpful in predicting future human diseases. But this may give rise to unnecessary feeling of health insecurity and fear among people. But this sort of bad effect must not resist the researcher to make their predictions. In near future when peoples health conditions would be predictable; planning can be done in advance for preventing health problems. As a result people will enjoy a better health. Hopefully the researcher may be able to give appropriate precautionary & preventive measure to tackle possible future diseases. Scientists & researchers may be able to replace or rectify the defective gene. This technological advancement of having all the information accessible on computers has made the world a closed family; the geographical distance doesnt matter any more.