Genome India Project is truly revolutionary project that was launched with the main goal of genotyping Indians. Initiated in January 2020 under the DBT this large scale flagship program aims at identifying the entire genetic makeup of healthy 10000 citizens of 99 different ethnic groups in the country. The research proposal is a mega project to be jointly funded by 20 leading scientific organizations from India like Indian Institute of Science, CSIR-Institute of Genomics & Integrative Biology and National Institute of Biomedical Genomics etc.
What is Genome Sequencing?
Before delving into the Genome India Project let us assess what Genome sequencing entails. The human genome is still an instruction manual from our parents that controls our physical makings to even our probability to fall sick. This genetic information is encoded in DNA, which consists of four bases:: adenine or informally, ‘A’, cytosine or ‘C,’ guanine or ‘G’ and thymine or ‘T’. Getting the sequence entails deciphering the order of these bases: there are about 3 billion base pairs in the human genome.
On What Basis Does the Genome India Project Matter?
- Capturing Genetic Diversity: India is a country that has made up of huge diversities in geography, languages, culture, and even genes. The Genome India Project, for instance, has targeted different populations to make a database rich enough to represent the gene pool. This will assist faculty members as well as any clinician who is intent on learning more about the distinct polymorphisms endemic to Indian genomes.
- Identifying Genetic Risk Factors: one of the major aims of the project in searching for genes associated with specific diseases. As molecular medicine advances, the origins of many diseases can be traced to a chromosomal or genetic change, and therefore therapies and diagnostic methods can be created to attend to this alteration. For example, the project has already found 135 million genetic variations in the 10,000 individual genomes sequenced so far and 7 million variations that were not in international data banks.
- Developing Precision Medicine: Data obtained from this project will form the basis for the prescription of the right treatment to the right patient. It is the practice of delivering medical treatment and drug based on variety of genetic characteristics of every patient with the aim of providing accurate treatment to the patients. The genotypic variation is especially valuable as the occurrence of the given genetic diseases, including sickle cell anaemia, differs in India.
- Enhancing Public Health: The project will also benefit society by offering information regarding how often genetic mutations that lead to disease occur. This information can go a long way in helping the policymakers in formulating relevant intervention as well as the healthier programmes to contain the particular disease. For example, identification of the disease genes of the tribal population might help in finding the right cure for diseases such as sickle cell anaemia.
- Boosting Biotechnology and Innovation: The Genome India Project will profoundly affect the Indian biotechnology industry. The impact of this project generative is to build a durable genetic base that also serve as a research and development tool that will culminate into developing new therapies and diagnostics, which in turn will make India a world class biotechnology and healthcare industry.
Especially with the Genome India Project crowned successful, future broadening has been made possible. The DBT planned an expansion of the proposed project and hopes to sequence up to a million genomes, which will provide an even fatter roadmap of Indians’ genetic structure. This means that enhancing the existing structure of sharing genetic data along with continued collaboration involving scientific institutions and data storage facilities will be the key to reaching this ambitious goal in the coming year.
How the Creation of a Database helps?
Genome India Project on Human Genome diversity is a comprehensive and very large scale project of government of India. Especially, a centralized and integrated genomic database which includes all human SNP information is a focus of this project. This database forms the basis of the project where investigators are able to gather, retrieve and assess large quantities of genetic information. Knowledge on this database is paramount to comprehending the full value of the Genome India Project. Here we will see how and why the establishment of the genomic database contributes to the goal of the project.
Centralised Genetic Data Depository
The principle purpose for designing a genomic database is to have a common pool of genetic information. It enables researchers to archive and organize data on tens of thousands of persons from different ethnic origins at the genetic level. When the locations of all the data are assembled in this central structure, researchers can use it and analyze it without worrying about leaving anything important behind. This centralization also creates an easy working relationship between different research institutions due to the free flow of data and information.
Supporting a Broad Array of Analysis
Due to the large-scale data generated by the Genome India Project, there lies an increased computational requirement as well as technologies or methods that can facilitate these. A genomic database is the foundation of the necessary structure for storing and elaborating this type of data on a large scale. In our present study, scholars can employ the analytical tools and advanced techniques like machine learning models to find out the associations, patterns and genetic differences within big datasets. Such large scale features are crucial for understanding the genetic basis of disease, finding genetic associations in populations, and later, gene related treatments.
Enhancing Precision Medicine
Precision medicine is focused on delivering the right treatment to a patient depending on the genetic makeup of the person to get the best results. A functional genomic database is one of the major prerequisites for the implementation of precision medicine. When a number of various people are tested for genetic thoroughness, scientists can discover which portions of DNA are linked to certain diseases. This information can then be used to come up with diagnostics tests and treatment that are disease type specific and genetic type specific. For instance, there are variations of the genes that could be mostly expressed in certain ethic group, and this knowledge can be used to create effective intervention programs.
Supporting public health initiatives
The Genome India Project holds long-term promise for the health of the population by generating a genomic database. Making use of the data gathered in the database, one can define the specific genetic predisposition for certain diseases present in India’s population. The information is beneficial to the public health authorities because the authorities possess knowledge on how to organize suitable interventions as well as preventive reforms and procedures. For example, knowledge of the released genetic structures of tribes will help in designing therapies of diseases such as sickle cell anaemia within tribal groups.
Highlighting Research and Development
Well-structured genomic databases have beneficial value for the interest of researchers and scientists. It offers loads of genetic data which can be utilised for different research purposes depending on matters such as the genetic model for diseases, evolution references, and population genetics. It is worth risking it when there is a ready database of this magnitude at your disposal, which inspires creativity and innovation in research proposals. It also encourages participation of global partners as all researchers round the globe can both use it and deposit information into the database.
Ethical and privacy Concerns
As part of the project of constructing genomic databases, there are also questions of ethics and privacy to bear, in regard to both the collation and utilisation of genetic information. Regarding the use of individuals’ data, the Genome India Project has insisted much on informed consent to extend the duties and be answerable for participants’ information. To ensure respect of the privacy and rights of the individuals who participate in the project, and to promote the scientific development of the field, the project stuck to the international ethical guidelines for data management and collect strong data governance frameworks.
Groundwork for future Studies
Last but not the least, the genomic database generated by the Genome India Project will pave path for subsequent studies. The kind of approach used by the researchers is superior as new technologies and methodologies come up, the database can be referred to for fresh insights on the data. Since it is a long-term utility, it means that the investment put in place to create the database is going to generate benefits in the several following years.
Other Similar Projects across the World
There are several other large-scale genomic projects in progress on the global scene, all designed to understand the genetic enigma of human population and serve the cause of medical research. These projects thus have in common that they aim at characterizing genetic variation and its consequences for health and sickness. Here are a few notable examples:
UK Biobank
UK Biobank is one of the largest genetic studies in the world. It was started in 2006 and has obtained samples from half a million volunteers. The goal of the project is to help biologist develop a database that will consolidate available information on genes and the environment influencing health and disease. Such data comprises whole genome sequencing, life style data, medical records, and imaging data.
The 1000 Genomes Project
The 1000 Genomes Project is an international collaborative project that kick-started in 2008 with an aim of sequencing a minimum of 1000 genomes from individuals of diverse worldwide origin. The intended result was the compilation of clearly defined list of human genetic variations that could be further utilized to understand disease mechanisms of genetic disorders and design individual approaches towards their treatment. The project has finally created a map of variation that will help in the understanding of various human genetic issues and diseases.
The Human Genome Project
HGP was an international research which sought to mapping and sequencing of the human genome. The project was finished in 2003; it offered the initial human genome sequence that has become the reference point for millions of studies since then. Despite the fact that some methods in the HGP are now out-dated, this project has given the basis for many genomic projects that followed and play a great role in biomedical and healthcare.
The All of Us Research Program
It is an on-going project of the NIH that started in 2015 in the US. The program is to attract at least one million people of varying ethnicity to build a base of genetic, health, and life data. The repository is to enhance faster research and better health with full details by offering superior dataset of different researchers.
Case Studies
- Mario’s Story: Mario Luna is a young boy with a severe heart disease; the result of Rady Children’s Institute for Genomic Medicine, gave a rapid diagnosis by doing whole genome sequencing. It orchestrated the sequencing and found out what was causing his heart issues by mutating the gene, and Mario was given a new heart in record time.
- Project Baby Bear: Project Baby Bear is a genetic sequencing service based in California that aims to offer swift whole genome sequencing to infants admitted to the ICU. The usage of the project has brought about improved benefits of up to millions in medical expenses due to the rapid determination of genetic related ailments in infants on critical illness.
- UK Biobank Obesity and Diabetes Research: Researchers of the UK Biobank research on obesity and diabetes found out genes that are protective against obesity and T2 Diabetes. These and other findings contained in this publication pave way for the development of new drugs or remedies for these ailments.