Genome India Initiative recently achieved a significant milestone as researchers completed sequencing 10,000 healthy genomes from different regions of the country.
Key Achievements by the Genome India initiative:
- The first whole human genome sequence of India was announced in 2003 and completed over 13 years at the cost of $3 billion.
- The technology enabled scientists to sequence thousands of genomes representing 99 distinct populations within a few months.
- It has culminated in the creation of a comprehensive genetic map of India, which holds immense potential for clinicians and researchers alike.
- An analysis of 5,750 of the genomes helped researchers identify 135 million genetic variants found in India.
- Certain variations occur only in some pockets of the population, while some are commonly found across large parts of the population.
Benefits of the Initiative:
- India is the largest genetic lab in the world, and this data can help drive the biology sector.
- India’s bio-economy has grown 13-fold in the last 10 years from $10 billion in 2014 to over $130 billion in 2024.
- It can also help identify targets for diagnostics and therapeutics.
- The entire dataset will be stored at the Indian Biological Data Centre (IBDC) and made available as a digital public good or research.
- The IBDC is India’s only databank, initiated in 2022, before that Indian researchers had to host their biological datasets on American or European servers.
Need for Initiative:
- There is a need an India-specific database because mutations found here might not be present globally.
- A mutation of 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.
- This data can be associated with their physical traits or disease history.
- It can help us identify disease-indicating variants, especially those causing certain cancers or rare diseases.
- The identification of resistance-indicating variants that make certain medicines or anesthetics ineffective in populations can be done.
About Genome India Project (GIP):
- It is a research initiative that aims to sequence the genomes of 10,000 Indians by the end of 2023.
- The project is led by the Indian Institute of Science (IISC) Centre for Brain Research and involves 20 national institutes.
- The Ministry of Science and Technology approved the project in 2020.
Key objectives include:
- Create an exhaustive catalog of genetic variations (common, low frequency, rare, single nucleotide polymorphisms or SNPs and structural variations) in Indians.
- Create a reference haplotype structure for Indians, which can be used for imputing missing genetic variation in future studies.
- Design genome-wide arrays for research and diagnostics at an affordable cost.
- Establish a biobank for DNA and plasma collected for future use in research.
Ref: Source
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