GS Paper 3
Syllabus: Science and Technology
Source: Th
Context: The Genome India Project, funded by the Department of Biotechnology, has completed sequencing 10,000 Indian genomes, creating a reference for Indian genetic diversity.
What is the Genome India Project?
It endeavours to sequence 10,000 Indian human genomes and create a database. This research (inspired by the International Human Genome Project) was carried out by 20 national institutes with support from the Department of Biotechnology, Government of India
What is a Genome?
A genome is a genetic material that provides instructions for the development, growth, and functioning of all living organisms, composed of DNA with a sequence of chemical bases that determines an organism’s characteristics.
An analogy to understand Genome:
The genome can be compared to a reference book. In this analogy, a genome contains the DNA– instructions for life. It’s composed of a vast array of nucleotides (letters) that are packaged into chromosomes (chapters). Each chromosome contains genes (paragraphs) that are regions of DNA which code for the specific proteins that allow an organism to function.
What is Genome Sequencing?
Genome sequencing is the process of determining the complete DNA sequence of an organism’s genome. It involves identifying the order of nucleotides (A, T, C, G) that make up the DNA molecule in each of the chromosomes of an organism.
Importance of Human Genome Sequencing as a scientific breakthrough:
- Advancing genetics: Human Genome Sequencing has revolutionized genetics by providing a comprehensive map of genetic information in human DNA.
- This knowledge enhances our understanding of genetic diseases, hereditary traits, and human evolution.
- Disease understanding: Genome sequencing has shed light on the genetic basis of numerous diseases, including cancer, rare genetic disorders, and complex conditions like diabetes and cardiovascular diseases.
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- INSACOG initiative of the Department of Biotechnology advocated Genome sequencing that allowed scientists to identify threats emerging from the COVID-19 pandemic and also how it spreads.
- Identifying genetic diseases: it has huge potential in the field of genetic diseases. India has witnessed a rise in cases of diseases like Sickle cell anaemia, thalassemia etc.
- Decreasing disease burden; genomic testing can help recognize what diseases people are at risk for so that could then also be quickly applied to the task of managing diseases in these groups as well as be used for genetic counselling that could reduce their incidence in future generations.
- Vaccine development: Only genome sequencing can identify various mutations which further will help in vaccine development and testing.
- Evolutionary insights: It provides insights into human evolution, ancestry, and migration patterns by comparing genomes from different populations and hominin species.
- Personalised medicines: genome-wide association studies have enabled us to tailor the diagnostics and treatment of these diseases for individuals in the form of personalised medicine.
- Precision medicine: By identifying genetic variations, researchers can tailor medical treatments and interventions to an individual’s unique genetic makeup.
- This has the potential to enhance treatment efficacy and reduce adverse effects.
India’s contributions to Genome Sequencing research: Over the years, India has developed rigorous regulatory policies to oversee research and applications done in the field of genomics and genetics.
- In the last 10 years, genetic testing in India has evolved by leaps and bounds, which can be recognized from the proliferation of genomic databases, such as Index-DB and, the Indian Genetic Disease Database (IGDD), to name a few.
- Mapmygenome project: With a vision to “Touch 100 million lives”, Mapmygenome was established in 2013, heralding the advent of improved healthcare through genomics-based healthcare.
- Mapmygenome also provides regular health checks and Covid testing along with Genomics in Hyderabad, Delhi and Bangalore.
- Genome India project: Taking inspiration from the Human Genome Project, the Department of Biotechnology (DBT) initiated the ambitious “Genome India Project” (GIP) on 3rd January
- The GIP aims to collect 10,000 genetic samples from citizens across India, to build a reference genome.
- IndiGen initiative: The IndiGen initiative was undertaken by CSIR in April 2019. The objective is to enable genetic epidemiology and develop public health technology applications using population genome data.
- This has enabled benchmarking the scalability of genome sequencing and computational analysis at a population scale in a defined timeline.
Challenges faced by the Genome India Project:
- Representative Diversity: Sequencing 10,000 genomes doesn’t fully represent India’s diverse population of over one billion, comprising around 4,500 population groups.
- Complex Genetic Landscape: India’s history of endogamy within castes preserves rare, potentially harmful genetic variants, complicating genetic analysis.
- Limitations of Monogenic Disease Focus: Most diseases are not monogenic (Monogenic refers to traits or diseases caused by variations in a single gene.), posing challenges in simplifying genetic research to establish direct disease links.
- Affordability of Treatments: Even with identified genetic causes of diseases, treatments are often unaffordable for many.
- Data Accessibility: Ensuring widespread access to project findings beyond academia is a significant challenge.
- Additional challenges in data generation and analysis include issues of sample contamination, accuracy of genetic tests without genotype-phenotype correlations
- Ethical concerns regarding sensitive genomic data sharing, data security, and privacy.
About the Human Genome Project:
The Human Genome Project (1990 to 20003) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint.
Human Pangenome Project
It is an International Alliance of genomics partners, that aims to create a Pangenome Reference representing the genetic diversity of the human population. It differs from the Human Genome Project in several ways:
- Inclusivity: Unlike the Human Genome Project’s focus on a limited set of populations, the Pangenome Project aims to encompass genetic variations from diverse populations worldwide.
- Graph-Based Representation: Unlike linear sequences used in the reference genome, the Pangenome is represented as a graph, acknowledging the dynamic nature of human genetics.
- Deeper Exploration: The Pangenome Project delves deeper into structural and rare genetic variants compared to the Human Genome Project.
- Error-free: The Pangenome map boasts high accuracy in representing genetic information, essential for reliable analyses and interpretations.
Conclusion
Genome India Project and Human Genome Sequencing exemplify the power of science to unravel the mysteries of our genetic code, offering hope for improved healthcare and a deeper understanding of our species’ genetic legacy. Its continued exploration and responsible application promise to shape the future of medicine and biology.
Mains Link:
What is Genome Sequencing and what are its benefits? Also, enumerate the steps taken by India in this direction. (10M)
Prelims Links:
With reference to agriculture in India, how can the technique of ‘genome sequencing’, often seen in the news, be used in the immediate future? (UPSC 2017)
- Genome sequencing can be used to identify genetic markers for disease resistance and drought tolerance in various crop plants.
- This technique helps in reducing the time required to develop new varieties of crop plants.
- It can be used to decipher the host-pathogen relationships in crops.
Select the correct answer using the code given below:
(a) 1 only
(b) 2 and 3 only
(c) 1 and 3 only
(d) 1, 2 and 3
Ans: D
