News Excerpt:

The Government’s ambitious Genome India initiative achieved a significant milestone as researchers completed sequencing 10,000 healthy genomes from different regions of the country, representing 99 distinct populations.

Genome India Project:

• The Department of Biotechnology (DBT) initiated the “Genome India Project” (GIP) in 2020. 
• The GIP’s aim was to collect 10,000 genetic samples from citizens across India, to build a reference genome.
• The project is led by the Centre for Brain Research at the Indian Institute of Science (IISC), which acts as the central coordinator between a collaboration of 20 leading institutions.
• The Department of Biotechnology (DBT) has officially announced the completion of the ‘10,000 genome’ sequencing.

Significance of Genome Sequencing:

• India first sequenced a complete human genome in 2006.
• 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.

Case Study:

The UK has announced the completion of half a million whole-genome sequences, almost 0.7% of its population.

• According to an estimate, 18.5% of the UK’s genome was actionable, translating to direct healthcare benefits to participants.
• Such data-sets are transformative, with far-reaching implications for both immediate and long-term advancements in the biological sciences.

Application of Genome Research in india:

• The long-term impact of population-scale genomics extends beyond individual health, shaping our comprehension of human evolution, migration patterns, and adaptation to diverse environments.
• It will also contribute significantly to our knowledge of human biology.
• The project would bring valuable addition to existing genome research, which has so far been limited to the Western context. 
• It 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.
• The project would ultimately support the development of predictive diagnostic markers. 
• It is also a key step to being able to learn about genetic variants that are unique to India’s population groups and use that to customise drugs and therapies.
• Genome sequencing can also help in identifying resistance indicating variants.
• For example genes that might make certain medicines or anaesthetics ineffective in certain populations. 
• It can also help identify targets for diagnostics and therapeutics.

We need an India-specific database because mutations found here might not be present globally. 

• For example, a mutation MYBPC3 that leads to cardiac arrest at a young age is found in 4.5% of the Indian population but is rare globally. 
• Another mutation called LAMB3 that causes a lethal skin condition is found in nearly 4% of the population near Madurai but it is not seen in global databases.

Drug development using the learnings from genome sequencing:

• The genomic approach to mapping and sequencing the genome project has accelerated the rate of gene discovery. 
• As of 1996, 62 human genes linked to human diseases had been isolated by genomic technologies and, of these, 51 (82%) were available in the public domain as clones or as DNA sequences.
• With the help of Genome Sequencing a new, but complementary, approach to drug development is now emerging which promises dramatic improvements in the efficiency and speed of drug development.
• This new approach may result in smaller and quicker clinical studies.
• Patients could be screened to identify the most suitable treatment, enhancing accuracy and effectiveness of drugs.
• Close monitoring of patient responses to treatments could be facilitated.
• This approach could significantly impact the planning and execution of clinical trials, as well as the medical management of diseases.
• Individual genetic testing, with knowledge of disease genes, will help early diagnosis and early treatment. 
• Recent advances in the genetics of complex traits (for example, diabetes, coronary heart disease and Alzheimer's disease) have to some extent reshaped disease phenotypic descriptions. 
• The techniques developed for automated sequencing and analysis of DNA may eventually allow inexpensive screening of multiple loci for polymorphisms.

Way forward:

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. This initiative would help lay the foundation of personalized healthcare for a very large group of people in our country.