The Department of Biotechnology (DBT) recently said that the exercise to sequence 10,000 Indian human genomes and create a database under the Centre-backed Genome India Project is about two-thirds complete.
About 7,000 Indian genomes have already been sequenced of which, 3,000 are available for public access by researchers.
The human genome is the entire set of deoxyribonucleic acid (DNA) residing in the nucleus of every cell of each human body. It carries the complete genetic information responsible for the development and functioning of the organism.
The DNA consists of a double-stranded molecule built up by four bases – adenine (A), cytosine (C), guanine (G) and thymine (T). Every base on one strand pairs with a complementary base on the other strand (A with T and C with G) In all, the genome is made up of approximately 3.05 billion such base pairs.
While the sequence or order of base pairs is identical in all humans, compared to that of a mouse or another species, there are differences in the genome of every human being that makes them unique. The process of deciphering the order of base pairs, to decode the genetic fingerprint of a human is called genome sequencing.
In 1990, a group of scientists began to work on determining the whole sequence of the human genome under the Human Genome Project. The first results of the complete human genome sequence were given in 2003. However, some percentage of repetitive parts were yet to be sequenced. The Human Genome Project released the latest version of the complete human genome in 2023, with a 0.3% error margin.
Challenges:
Medical Ethics: In a project that aims to create a database of genetic information, it may be misused for gene modification.
Data Storage: After collection of the sample, anonymity of the data and questions of its possible use and misuse would need to be addressed.
Social Issue: Studying genes and heredity can reinforce harmful stereotypes and lead to a racial interpretation of politics and history.
Technical and logistical issues: Collecting and analysing large amounts of genetic data can be technically challenging and requires advanced laboratory facilities and expertise.
Cost: Genome sequencing is an expensive process, and the project requires significant funding to collect and analyse genetic data from a large number of individuals.
The process of whole-genome sequencing, made possible by the Human Genome Project, now facilitates the reading of a person’s individual genome to identify differences from the average human genome. These differences or mutations can tell us about each human’s susceptibility or future vulnerability to a disease, their reaction or sensitivity to a particular stimulus, and so on.
Genome sequencing has been used to evaluate rare disorders, preconditions for disorders, even cancer from the viewpoint of genetics, rather than as diseases of certain organs. Nearly 10,000 diseases — including cystic fibrosis and thalassemia — are known to be the result of a single gene malfunctioning.
At the population level as well, genomics has several benefits. Advanced analytics and AI could be applied to essential datasets created by collecting genomic profiles across the population, allowing to develop greater understanding of causative factors and potential treatments of diseases. This would be especially relevant for rare genetic diseases, which require large datasets to find statistically important correlations.