The GenomeIndia Project, launched by the government in January 2020, is a landmark initiative that has completed whole genome sequencing of 10,000 Indians.

The project has cataloged the genetic diversity of the Indian population, highlighted rare genetic variants, and paved the way for precision medicine in the country.

Unlocking genetic diversity

India is home to an incredibly diverse population, with over 99 ethnic groups participating in the GenomeIndia project. More than 10,000 genomes have already been sequenced in the first phase, the data of which is safely stored in the Indian Biological Data Centre.

Dr. Mohd. Farooq, scientist at CSIR-IGIB, said, “This project provides an important baseline of population-specific genomic data, which helps in accurate diagnosis, risk prediction and pharmacogenomics. For example, we have identified rare genetic variants that are unique to the Indian population.

Dr. Farooq also highlighted the importance of this data in drug response studies: “Many genetic variants that influence drug efficacy and adverse reactions are not found in international databases. This could help improve treatment outcomes and reduce adverse drug reactions.” “highlights the need for localized genomic context.”

Benefits for precision medicine

One of the key promises of the GenomeIndia project is its potential to revolutionize health care through precision medicine. Dr Madhulika Kabra from AIIMS, New Delhi said, “GenomeIndia provides a unique opportunity to identify population-specific genetic variants. This will help in targeted clinical interventions, such as identification of individuals at risk for genetic disorders and offer personalized treatment strategies.”

He also emphasized the role of the project in addressing rare diseases: “The availability of carrier frequency data for rare disorders will enable us to better define and manage these conditions in the Indian context. For example, we can now Can focus on able-bodied rare disorders and predict them.” comprehensiveness, and design effective policies.”

Rare genetic variants and public health

The GenomeIndia project has uncovered more than 135 million genetic variations, including 7 million new variants not found in global databases. Many of these have clinical significance, such as hypercholesterolemia and susceptibility to diseases such as breast cancer.

Dr Arindam Maitra of BRIC-NIBMG, Kalyani said, “We have created a polygenic risk score (PRS) using this data, which will allow us to predict complex diseases more effectively. “Knowledge of genetic risks can help people make lifestyle changes to reduce their risk.”

The absence of population-specific genomic data has often limited the success of genetic diagnosis in India. Dr Farooq commented, “Commercial genetic diagnostic platforms often miss diagnosis of many cases due to lack of Indian reference data. GenoIndia addresses this gap, improving diagnostic accuracy for monogenic and complex disorders Is.”

Prime Minister Narendra Modi called the completion of the GenomeIndia project a “historic step” given the 13-fold expansion of the biotechnology sector in the last decade, from $10 billion in 2014 to more than $130 billion by 2024.

This project will help transform the diagnosis and treatment of genetic disorders in the Indian population.