Why is it in the news?

• Over the past decade, genomics in India has undergone a remarkable evolution, impacting the detection, management, and treatment of various diseases such as tuberculosis, cancers, and conditions linked to antimicrobial resistance, heralding a forthcoming medical revolution.

More about the news

• Recently, in January 2024, the Department of Biotechnology announced the successful sequencing of 10,000 genomes from 99 ethnic groups as part of the ‘Genome India’ project. This national endeavour aims to establish a reference genome for the Indian population to enable the development of cost-effective diagnostic tools and disease-specific ‘genetic chips.’

• In October 2020, the Council for Scientific and Industrial Research (CSIR) completed sequencing the genomes of 1,008 individuals representing diverse ethnicities in India within six months as part of the ‘IndiGen’ mission. This initiative intended to create a foundational dataset for researchers to analyze genetic disease epidemiology, enhance screening methods, optimize treatments, and reduce adverse effects.
• Furthermore, various disease-specific consortia have emerged across India, collaborating to address a wide spectrum of health issues including tuberculosis, cancers, rare genetic disorders in children, and antimicrobial resistance.
• Researchers have harnessed the power of artificial intelligence and machine learning, in conjunction with extensive datasets on proteomics, transcriptomics, and epigenomics, to adopt a ‘multi-omics’ strategy in combatting diseases.

Tuberculosis

• A recent consortium has been formed to tackle tuberculosis, a persistent health challenge in India and globally.
• The Indian Tuberculosis Genomic Surveillance Consortium (InTGS) is a coalition of ten sites spread across eight states, focused on sequencing approximately 32,000 clinical strains of tuberculosis from active patients to establish a centralized repository in India.
• Key goals concerning tuberculosis include mapping the genetic diversity of tuberculosis bacterial isolates, correlating mutations with drug resistance patterns, and applying whole-genome sequencing outcomes to develop effective solutions. The project aims to create a sequence-based method to identify drug resistance, integrating epidemiological findings with genetic data for comprehensive insights.
• Scientists from prominent research institutions are collaborating in different project stages: patient sample collection, genetic material isolation, sequencing, and data analysis to predict drug resistance.

Rare Genetic Disorders

• India has initiated a nationwide initiative called Paediatric Rare Genetic Disorders (PRaGeD) to address the growing concern around these uncommon yet impactful conditions in public health.
• Mission PRaGeD aims to raise awareness, conduct genetic testing, identify and characterize new genetic variants or genes, offer counselling services, and develop innovative therapies for rare genetic diseases affecting children in India.
• The mission will integrate IndiGen data into its internal bioinformatic workflows for analyzing exome regions responsible for encoding proteins.
• The CSIR-Centre for DNA Fingerprinting and Diagnostics (CDFD) in Hyderabad, along with 15 collaborating centres across India, is planning to enrol patients and families affected by rare genetic disorders.
• The study focuses on identifying novel genes associated with known or unexplained inherited traits, supporting disease management, and enabling prenatal diagnosis. The team will characterize new genes or variations to understand their role in disorders using model organisms like mice, fruit flies, and zebrafish.
• Next-generation sequencing will be employed to manage rare diseases, especially when conventional tests are inconclusive, aiding in faster and more precise diagnoses at a national scale.

Cancers

• The Indian Cancer Genome Consortium (ICGC-India), a part of the larger International Cancer Genome Consortium (ICGC) and backed by the Department of Biotechnology, is working on profiling genomic abnormalities in various cancer types among Indian patients.
• Several institutions have set up genomic data repositories akin to ICGC to support cancer research and personalized medicine endeavors tailored to the genetic diversity of Indian populations.
• Efforts like the Indian Cancer Genome Atlas project are striving to create a comprehensive genomic catalogue of alterations in prevalent cancer types in India to identify potential biomarkers and therapeutic targets.
• Clinical trials in cancer are increasingly integrating genomics to categorize patients based on molecular subtypes for targeted therapies.

Antimicrobial resistance

• Genomics and metagenomics offer substantial support in analyzing antimicrobial resistance and investigating the rapid spread of antibiotic resistance traits among bacterial species.
• Genome sequencing is particularly valuable in identifying microbial resistance profiles without the need to culture slow-growing microbes like those causing tuberculosis, guiding clinicians in antibiotic prescribing practices for effective treatment.
• Pathogen-specific resistance signatures in tuberculosis can significantly enhance antimicrobial resistance diagnostics and optimize drug combinations for successful therapy.

AI, ML, and multi-omics

• Artificial intelligence (AI) and machine learning (ML) tools are aiding genomics research by facilitating extensive dataset analysis to predict cancer risk, develop early diagnostic tools, classify cancers, and strategize treatment approaches.
• AI and ML techniques are also increasingly utilized for analyzing genome sequencing data in rare genetic disorders to identify disease-causing variants efficiently.
• Leveraging AI and ML in bioinformatic workflows and commercial tools enables the analysis of massive sequencing data, crucial for disease variant identification.
• The progress of AI allows swift access and analysis of multi-omics and rapid analysis of Big Data products, which has become a pivotal focus in the clinical science domain in India.