Explained: India’s Own Human Genome Project, How It Will Aid Our Fight Against Cancer And Genetic Diseases

On 25 October, Council of Scientific & Industrial Research (CSIR) announced that it has conducted Whole Genome Sequencing of 1,008 Indians from different populations across the country.

This was done as part of the IndiGen initiative undertaken by CSIR in April 2019. The project was implemented by the CSIR-Institute of Genomics and Integrative Biology (IGIB), Delhi and CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad.

IndiGen aims to undertake Whole Genome Sequencing (WGS) of thousands of individuals from diverse ethnic groups in India.

The Basics

A genome refers to an organism's complete set of DNA, including all of its genes. Therefore, WGS entails determining the complete DNA sequence at a point in time. It includes the organism's chromosomal DNA as well as DNA contained in the mitochondria.

While the field of genetics refers to the study of individual genes and their roles, genomics entails study of all of an organism's genes collectively- how they affect each other and the organism.

Simply put, the process of ‘gene expression’ happens through synthesis of proteins. These proteins trigger the intended change in the cells and are synthesised after the corresponding DNA is transcripted to RNA in the cell’s nucleus.

Such DNAs which can be transcribed into ‘messenger’ RNAs are called protein-coding DNA. Protein-coding DNA sequences are the most widely studied and best understood component of the human genome.

However, protein-coding DNA consist of only a small fraction of the genome - less than two per cent - the remaining 98 per cent of human genome consists of noncoding DNA.

Noncoding DNA that don’t find a function in gene expression have biological functions- like regulating structural features of the chromosomes and DNA replication.

IndiGen is basically the India-specific version of the Human Genome Project (HGP), an an international scientific research project. The latter was primarily funded by the US government and was declared complete in 2003.

The HGP was able to map close to 92.1 per cent of the human genome, leaving out difficult portions of the chromosomes like centromeres and telomeres, with high accuracy.

Why genome sequencing is important

With the exception of identical twins, all humans show significant variation in genomic DNA sequences. People of same ethnicity/race may have more commonalities. Similarly. Based on genomic commonalities, certain populations of the world may be more susceptible to certain diseases, and so on.

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.

The broad-based genome data and knowhow for the its analysis will help in development of technologies for clinical and biomedical applications in India.

In the future, the technology is expected to deliver cost effective genetic tests, carrier screening applications for expectant couples, enabling efficient diagnosis of heritable cancers and pharmacogenetic tests to prevent adverse drug reactions.

On the occasion, the health minister also unveiled the IndiGenome card and accompanying IndiGen mobile application that enables participants and clinicians to access clinically actionable information in their genomes.  This will pave the path for personalised treatments and precision medicine.

Genome sequencing also helps in evolutionary and anthropological studies. Genome sequencing has also helped us in developing better varieties of food crops.

However, the field also raises serious ethical, social concerns. The genome of a person can offer a host of information that is unknown to himself, to those who can analyse it. During the HGP, concerns were raised that the data might be used by big companies for hiring/firing employees, insurance companies to deny insurance to certain people etc. Therefore, privacy remains a serious concern.

The genomics has also revived the old debates over racial differences. Any genetic grounding of evolutionary differences between different races can have social repercussions with certain groups using the information to justify racial discrimination or race-purity.

Genomics also raise the ethical issues regarding human interference in natural processes. As the technology develops further, scientists would be able to ‘design’ humans with assorted set of good genes.

Will this lead to a new form of Eugenics where parents discard a genetically inferior embryo early on? Will the rich be able to buy 'intelligence’ as they can buy ‘beauty’ through lip injections, plastic surgeries, implants etc? What would the concepts like hard work, merit, equality etc mean in such a world?

These are some of the hard questions we will have to figure out as we move along.