COVER STORY
leaders to ensure that genomic advancements benefit every section of society ."
What is it so significant ?
The Genome India Project primarily utilizes whole-genome sequencing ( WGS ) and bioinformatics to analyze genetic variations . Advanced computing techniques , including artificial intelligence and machine learning , play a crucial role in sifting through massive datasets to identify patterns .
The 10,000 whole genome sequencing ( WGS ) samples come from diverse Indian populations and provide a rich catalog of genetic variations . Helen Speirs , Associate Director , Large National Genomics Initiatives Leader , AMEA , Illumina calls it a positive step forward to ensure precision medicine becomes standard of care for all Indians . People across the globe have very similar genes but small variants between populations can impact health . Having a more unique dataset will give the opportunity for researchers to explore , for example , differences in the way people respond to drug treatment . However , the dataset may need to be expanded to include more genomes . The population in India is very diverse with many different ethic backgrounds and a larger dataset is more likely to clearly represent different genetic variants .”
“ This project will enable the identification of novel biomarkers covering the diverse population of India , guide the discovery of new drug targets , and enhance the development of genetic testing solutions for diseases like cancer , rare disease , reproductive health etc ., says Dr Ravi Gupta , Vice President – Bioinformatics , MedGenome pointing out how for many
companies like his can this data can drive innovation in precision diagnostics , pharmacogenomics , and rare disease research specifically for the Indian population .”
“ For diseases like cancer , understanding the underlying cause can enable healthcare providers to recommend targeted therapies tailored to the individual . In the case of rare diseases , this knowledge can shed light on the genetic basis , guiding healthcare providers in selecting the most effective treatments or , in some instances , managing the condition more effectively . In both scenarios , such insights are essential for helping patients better manage their disease and improve their quality of life ,” adds Dr Gupta who cites projects such as the GenomeAsia 100K and the South Asian variant as an example where database of more than 17 million unique variants spearheaded by MedGenome have shown that access to comprehensive South Asian genomic data , enabling the development of polygenic risk score ( PRS ) based predictive genetic tests for various lifestyle conditions like coronary artery disease ( CAD ), Parkinson ’ s Disease , Alzheimer ’ s Disease and lifestyles diseases .
The Evolution of India ' s Genomics Industry and Policy Initiatives
India ’ s journey in genomics has been a remarkable blend of scientific ambition , government support , and private-sector innovation . Over the past four decades , the country has evolved from having a modest presence in biotechnology to becoming a global hub for genomics research , diagnostics , and precision medicine . This transformation has been driven by key policy initiatives , institutional frameworks , and international collaborations .
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BioVoiceNews | February 2025