• Sanjay Trivedi

Genome sequencing to help in precision medicine

Updated: Oct 26, 2019

The Council of Scientific & Industrial Research (CSIR) has conducted Whole Genome Sequencing of 1,008 Indians from different populations across the country. Announcing details of the IndiGen Genome project, the Union Minister for Science & Technology, Earth Sciences and Health & Family Welfare, Dr Harsh Vardhan said that the whole genome data will be important for building the knowhow, baseline data and indigenous capacity in the emerging area of Precision Medicine.  The outcomes of the IndiGen will have applications in a number of areas including predictive and preventive medicine with faster and efficient diagnosis of rare genetic diseases, he added.

The IndiGen initiative was undertaken by CSIR in April 2019, which was implemented by the CSIR-Institute of Genomics and Integrative Biology (IGIB), Delhi and CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad. This has enabled benchmarking the scalability of genome sequencing and computational analysis at population scale in a defined timeline. The ability to decode the genetic blueprint of humans through whole genome sequencing will be a major driver for biomedical science.

Dr Harsh Vardhan said that the benefits of this initiative include epidemiology of genetic diseases to enable cost effective genetic tests, carrier screening applications for expectant couples, enabling efficient diagnosis of heritable cancers and pharmacogenetic tests to prevent adverse drug reactions.

The Council for Scientific and Industrial Research has sequenced the entire genomes of 1008 Indians in six months, under a mission that was aimed at demonstrating capability and scalability of Indian research institutions. This initiative, called IndiGen, was undertaken by two CSIR institutions — Institute of Genomics and Integrative Biology (IGIB), Delhi and Centre for Cellular and Molecular Biology (CCMB), Hyderabad. .

Announcing the development, Union Minister for Science and Technology Dr Harsha Vardhan said that sequencing 3.3 billion nucleotides per individual were a phenomenal feat, and to accomplish 1008 sequences within half a year showed that India was now developing the potential to scale up the process and make avail individual sequencing at low costs to people. The bigger, scientific advantage of the project is that India is fast building up its genetic database.

So far, all genetic screenings on patients in India are done against Western databases. The advantage with local databases is that it shows regional variations and specifications. This has great use in pharmacogenesis, a branch of science that looks at how drugs respond to various genetic types. For instance, a person with a specific genetic makeup may not be as responsive to a particular drug as he is to another drug. In the age of personalised medicine, such information has many uses. 

The scientists chose the samples from across India, using only healthy individuals. They extracted genetic material mainly from blood samples. There are 55 genetic sub-population groups in the country according to the Indian Genome Variation database, and this project took a sampling from across these groups. It also took samples of 100 healthy individuals in the 90-100 years, age group. The results of the study are still being analysed, but scientists are trying to see if they can find out whether long, healthy lives among these individuals could be traced to the genetic level. 

Around seven private laboratories have shown interest in the study and in getting the database so that they can provide more specific genetic tests for their clients. The minister said that these would come at a later stage, once laws and regulations regarding sharing such data are in place. The applications of using the database would be in areas like carrier screening (whether prospective parents are carriers of a genetic disorder), pharmacogenomic research, ancestry history and Human Leucocyte Antigen (HLA) typing, through which scientists match tissues of various individuals. Dr. Harsha vardhan said that the speed at which the genomes were sequenced shows that now India can do this for patients, and at a much lower cost. He said that while ten years ago, a whole-genome sequencing cost around Rs 70 lakh, today, it can be done at one lakh rupees.

Director General, CSIR and Secretary, Department for Scientific & Industrial Research, Dr Shekhar C. Mande said that it is important to ensure that India, with its unparalleled human diversity, is adequately represented in terms of genomic data and develops indigenous capacity to generate, maintain, analyze, utilize and communicate large-scale genome data, in a scalable manner.

CSIR has led human genomic sciences in India and has made major contributions in understanding the “Indian Genome Variation”. Pioneering collaborations in genomics has been fostered by CSIR both nationally and internationally. Furthermore, CSIR contributed towards the first personal human genome in India and in understanding ancestral population in India and early migrations that led to what we know today on distinct ethnic groups. CSIR also pioneered the application of genomics in clinical settings in the area of rare genetic diseases in India by means of DNA/Genome based diagnostics and interaction with large number of clinical collaborators.

In Curtain raiser meet of ‘Global Bio-India 2019’, Dr. Harsh Vardhan released the 'Guidelines for evaluation of Nanopharmaceuticals in India'. Session was informative & aimed at encouraging #NewIndia nano technologies. These guidelines have been prepared with an aim to ensure the quality, safety and efficacy of nanopharmaceuticals as well as to encourage the commercialization of #nanotechnology-based inventions. At the #GlobalBioIndia2019, I spoke with great emphasis on how the guidelines have been prepared with the aim to ensure the quality and efficacy of nanopharmaceuticals & would encourage the commercialization of #nanotechnology based inventions.

Dr Balram Bhargava, in his address says that the country has to respond to newer therapies/ technologies like nanopharma for which the formulated guidelines on nanopharma is an important step are indispensable. An IndiGenome card & accompanying IndiGen mobile app has also been developed. This enables participants & clinicians to access clinically actionable information in their genomes while ensuring privacy and data security.




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