Genome sequencing by CSIR to help in precision medicine

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 Harshavardhan 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. 

Harshavardhan 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.