Context: Recently, the Department of Biotechnology (DBT) officially announced the completion of the ‘10,000 genome’ project — an attempt to create a reference database of whole-genome sequences out of India. 

• The United Kingdom, China, and the United States are among the countries that have programmes to sequence at least 1,00,000 of their genomes.

Distinct variations in Indian Population

• The Indian population of 1.3 billion consists of over 4,600 population groups, and many of them are endogamous.

• These factors have contributed to the genetic diversity of the current population.

• Thus, the Indian population harbours distinct variations and often many disease-causing mutations are amplified within some of these groups.

What is the human genome?

• The human genome is the entire set of 23 large deoxyribonucleic acid (DNA) residing in the nucleus of every cell of each human body. 

• It carries the complete genetic information responsible for the development and functioning of the organism. 

Base: The DNA consists of a double-stranded molecule built up by four bases – 

1. adenine (A)

2. cytosine (C)

3. guanine (G) 

4. thymine (T)

• Every base on one strand pairs with a complementary base on the other strand (A with T and C with G).

• In all, the genome is made up of approximately 3.05 billion such base pairs. 

What is Genome Sequencing?

• Genome sequencing involves revealing the order of bases present in the entire genome of an organism. 

• While the sequence or order of base pairs is identical in all humans, there are differences in the genome of every human being that makes them unique. 

• The process of deciphering the order of base pairs, to decode the genetic fingerprint of a human is called genome sequencing.

Why it matters?

• A complete human genome makes it easier to study genetic variation between individuals or between populations.

• A genome refers to all of the genetic material in an organism.

• The human genome is mostly the same in all people, but a very small part of the DNA does vary between one individual and another.

• It can help identify differences from the average human genome that are often associated with disorders and disease but can also be associated with other factors like disease resistance or sensitivity to an environmental perturbation like sunlight or exercise.

Significance of genome sequencing

• Disease-based human genetics: The Indian population of 1.3 billion consists of over 4,600 population groups, and many of them are endogamous.

• These factors have contributed to the genetic diversity of the current population. Thus, the Indian population harbors distinct variations and often many disease-causing mutations are amplified within some of these groups. 

• Therefore, findings from population-based or disease-based human genetics research from other populations of the world cannot be extrapolated to Indians.

• Evaluation of disease: Genome sequencing has been used to evaluate rare disorders, preconditions for disorders, even cancer from the viewpoint of genetics, rather than as diseases of certain organs. Nearly 10,000 diseases, including cystic fibrosis and thalassemia are known to be the result of a single gene malfunctioning.

• Treatments of diseases: Advanced analytics and AI could be applied to essential datasets created by collecting genomic profiles across the population, allowing to develop greater understanding of causative factors and potential treatments of diseases. 

• Help in customizing drugs and therapies: Creating a database of Indian genomes means that researchers anywhere can learn about genetic variants that are unique to India’s population groups and use that to customize drugs and therapies. 

Road Ahead

• This project allows India to draw upon its tremendous genetic diversity, given the series of large migrations historically, and thus, add greatly to the current information about the human species.

• This initiative reflects India’s progress in gene therapies and precision medicine, and its movement towards emerging next-generation medicine which yields the possibilities for greater customization, safety, and earlier detection.