Under the Genome India Project, the Department of Biotechnology announced a new platform and framework for sharing human genome dataset duly sequenced. It consists of 10,000 genome sequences of healthy individuals from 99 ethnic populations in India. It will help create a baseline map of India’s genetic diversity. In the second phase, the researchers will sequence genomes of people with specific diseases.
Genomes and Their sequencing
We inherit from the parents an instruction manual that decides how our body develops and functions. Right from our height to the colour of our eyes and hair is decided by the instruction manual. It also decides the diseases we inherit or are pre-disposed to. The name for this manual is genome which is made up of twisted paired strands of deoxyribonucleic acid or DNA.
Each strand of DNA consists of four chemical units, or bases, denoted by the letters A,C,G and T. The order of these bases determines the meaning of information encoded in the DNA. There are various combinations of these bases (say some three billion pairs in the complete human genome). These determine the complete genetic makeup of each individual.
What is sequencing? Sequencing refers to the exact order of theses bases in an individual strand of DNA. This is done by extracting information from the blood. Every single cell virtually contains a complete copy of the individual’s genome. However, it is difficult to handle the entire genome.
A genome is cut into smaller pieces and these pieces are tagged. They are then decoded. As it is, they smaller chunks of genetic material. The information is reconfigured using tags to create the whole genome.
India Project
India has diversity — some 4600 distinct populations. It leads to genetic diversity. The Genome India Project seeks to capture this diversity. Under this project, 10,000 genomes will be sequenced.
Ultimately, one million genomes will be sequenced.
Benefits
It will be easy to identify genetic basis of diseases and the risks for such diseases. The therapies and doses can be targeted. The new diagnostic tests could be developed.
Genetic manipulation — modifying, deleting or adding certain genes — can lead to new therapies and can eliminate such diseases.
There are 135 million genetic variations in 10,000 genome sequences. Some 7 million variation are not found in other global databases. We will thus identify specific Indian genetic variations. Scientists will identify their frequency, to assess how it leads to a common disease. MYBPC3 mutatron leads to cardiac arrest at young age. It is found in 4.5 per cent of Indian population but is rare globally.
We will also identify resistance-inducing variations.
Certain medicines and anesthetics are ineffective in certain populations.
Second Phase the Project
Here genome sequencing will be done of people with specific diseases. A comparison can be made between a healthy and diseased genome. It will help identify the culprit genes that cause the disease or predispose to that disease.
Researchers will also identify genetic changes induced when one suffers from a particular disease.
Sequencing will be done for different types of cancer, chronic conditions such as diabetes, various neurological or neuro-degenerative diseases and certain rare diseases found in Indian population.
The data will be protected and care will be exercised while sharing the data. The data could be shared with institutes who parther with us in the project.
The data will be double-blinded to maintain anonymity. Samples from partner institutes will be encoded before uploading and will be encoded again when shared with researchers.