Genome India Project (GIP)

Posted 22 Feb 2025

Updated 28 Feb 2025

5 min read

Why in the News?

Genome India Project (GIP) has achieved a significant milestone by making the genomic data of 10,000 individuals publicly accessible.

Whole genome sequencing data for 10,000 individuals have been archived at Indian Biological Data Centre (IBDC).
- IBDC, Faridabad is India's first national life science data repository, mandated to archive publicly funded research data. It is supported by Department of Biotechnology.
Framework for Exchange of Data Protocols (FeED)' and the IBDC Portals were also launched at Genome India Data Conclave.
- 'Framework for Exchange of Data (FeED)' Protocols is under Biotech-PRIDE Guidelines and it ensures high-quality, nation-specific data sharing in a transparent, fair, and responsible manner.

It was initiated in 2020 by Department of Biotechnology (DBT), Government of India with collaborations of 20 institutions to map India's genetic diversity.
Primary objective: Build a comprehensive catalogue of genetic variations that reflect unique diversity of Indian population.
Key Achievements:
- 20,000 samples collected from 83 diverse populations, establishing a bio bank.
- 10,000 genomes sequenced in first phase, creating a reference genome for India.

What is Genome: It is entire set of genetic material i.e. DNA/RNA (DNA in most organisms) present in an individual or species.
- It contains all information necessary for development, functioning, and maintenance of that organism.
Genome Sequencing: It is process of determining complete genetic material sequence of an organism's genome.
- It determines the precise sequence of nucleotide bases in DNA/RNA strand.

Sequence of bases (often referred to by first letters of their chemical names: A, T, C, G and U) encodes biological information that cells use to develop and operate.
Applications:
- Healthcare and Medicine:
  - Medical Research: Genome sequencing aids in identifying genetic disorders and Enhances disease research by linking genetic variations to prevalent health conditions.
  - Other Applications: Facilitates precision medicine, early detection of diseases, aids in cancer research etc.
- Public Health & Epidemic Control:
  - Epidemiology: Tracking pathogens during outbreaks allows for better public health responses.
  - Vaccine Development: Helps in designing vaccines against infectious diseases.
- Agricultural Science: It helps in improving crop varieties and livestock through genetic insights.
- Biodiversity Conservation: Helps in cataloging species and understanding evolutionary links.

IndiGen program: Genomics initiative by the Council of Scientific and Industrial Research (CSIR) to sequence the genomes of Indians from various ethnic groups.
'One Day One Genome' initiative by DBT: Will highlight the unique bacterial species found in our country and emphasize their critical roles in environment, agriculture and the human health.
Human Genome Project (HGP): An international collaboration that aimed to map and sequences the entire human genome. It began in 1990 and was completed in 2003, with a final gapless assembly achieved in January 2022.
100,000 Genomes Project: England's very first initiative sequencing 100,000 genomes from around 85,000 NHS patients affected by rare disease or cancer.
International HapMap Project: Analyzing over a million variants in African, Asian, and European ancestry groups, it helps identify genetic links to diseases, aids in diagnostic tool development, and improves therapeutic targeting.

Data Accuracy and Error Correction: Despite advancements, sequencing technologies still grapple with errors, particularly in long-read sequencing.
Lack of Data Protection and Regulation: Many Indian genomic samples are sent abroad for sequencing, as existing regulations allow commercial export of biological samples. This raises concerns about data security and privacy.
Ethical Issues: Raises ethical concerns like potential for genetic discrimination, question of Informed Consent, issues of eugenics etc.
Inequity and low diversity: Unregulated market forces may create barriers to better healthcare access, especially for the poor and ethnic minorities.
Cost and Accessibility: While sequencing costs have dropped significantly, large-scale projects remain expensive, limiting accessibility in low-resource settings.
Fragmentation of genetic data: With a number of organizations providing genetic testing services, the data remain in silos.
- Without a framework for collecting well aggregated summary data, the data remains inaccessible for public health decision-making.

Advancements in Sequencing Technologies: Continued innovation in sequencing platforms e.g. improvements in long-read accuracy to detect complex genomic rearrangements, using next generation sequencing (NGS) etc.
- NGS is a high-throughput DNA sequencing technology that allows for rapid and parallel sequencing of millions of small DNA fragments simultaneously.
  - NGS enables sequencing entire genomes much faster and at a lower cost compared to traditional sequencing methods like Sanger sequencing.
Ethical Frameworks and Policy Development: Establishing clear ethical guidelines and policies for genome sequencing applications, particularly in population screening, is essential.
Global best practices can be followed for curbing various ethical and privacy related issues e.g. Genetic Information Non-discrimination Act (GINA) of US.
Cost Reduction and Global Accessibility: Efforts to further reduce sequencing costs and simplify workflows will make genomic technologies more accessible worldwide.