Genome India Project

Syllabus
GS Paper 3 – Awareness in the fields of IT, Space, Computers, Robotics, Nano-technology, Bio-technology and issues relating to Intellectual Property Rights.

Context
The Genome India Project, the most extensive effort to sequence 10,000 genomes of the Indian population, has been completed, as announced by the Department of Biotechnology.

Genome India Project

Table of Contents

Introduction

With a population of 1.3 billion, India is a mosaic of over 4,600 diverse population groups. Many of these groups are endogamous, meaning they marry within their own ethnic group. This has led to unique genetic variations and disease-causing mutations that are distinct from other populations. The creation of an Indian genome database allows researchers to study these unique genetic variants, paving the way for the development of personalized drugs and therapies. Countries like the United Kingdom, China, and the United States have already initiated programs to sequence at least 100,000 genomes of their own populations.

Launch and Vision: The Genome India Project was launched in 2020 with the vision of “Cataloguing the genetic variations in Indians” over a span of three years (2020-2023).
Inspiration: The Genome India Project is a scientific initiative inspired by the Human Genome Project (HGP), an international effort that successfully decoded the entire human genome between 1990 and 2003.
Aim: The project aims to create a comprehensive catalogue of 10,000 genetic samples from citizens across India, thereby building a reference genome.
Objective: The project was initiated with the objective to better understand the genetic variations and disease-causing mutations specific to the Indian population, which is one of the most genetically diverse in the world. By sequencing and analyzing these genomes, researchers hope to gain insights into the underlying genetic causes of diseases and develop more effective personalized therapies.
Institutional Support: The project is supported by the Indian Institute of Science’s (IISC) Centre for Brain Research.
Partnerships: The project involves the collaboration of 20 partner organisations across India.
Funding: The project is funded by the Department of Biotechnology.
Methodology: The project employs the Next-Generation Sequencing (NGS) platform for genome sequencing. This method involves fragmenting DNA/RNA into multiple pieces, adding adapters, sequencing the libraries, and reassembling them to form a genomic sequence.

Genome and Genome Sequencing

Genome: A genome is the complete set of Deoxyribose Nucleic Acid (DNA), encompassing all of an organism’s genes. It carries all the information necessary for the construction and maintenance of that organism.
Human Genome: In humans, a copy of the entire genome, which consists of more than 3 billion DNA base pairs, is contained in all cells that have a nucleus.
DNA Structure: The discovery of DNA’s structure as a “double helix” ignited the ongoing quest to understand how genes govern life.
Genome Sequencing: Genome sequencing is a state-of-the-art, robust, and high-throughput technique used to sequence an organism’s entire genome.

Significance of Genome Sequencing

Understanding the Virus: Genome sequencing serves to comprehend the role of specific mutations in enhancing a virus’s infectivity. Certain mutations account for immune escape, or the virus’s ability to dodge antibodies, which has implications for vaccines.
Efficacy Study: It aids in examining the effectiveness of the developed vaccines against such mutant strains of the virus and their ability to prevent re-infection and transmission.
Mutation Tracing: From a “know-thy-enemy” perspective, sequencing the genomes of viral strains is crucial as it simplifies the process of tracing mutations. This allows scientists to detect mutations more easily and swiftly.
Vaccine Development: The knowledge generated through critical research aids in the development of diagnostics, potential therapeutics, and vaccines for current and future potential diseases.
Information Extraction: Genome sequencing of individuals who tested positive for COVID or any other virus of concern can yield important information and findings.

Significance of Genome India Project

Precision Healthcare: The Genome India Project (GIP) is geared towards developing personalized medicine based on patients’ genomes to predict and modulate diseases. By associating disease propensities with genetic variations, interventions can be more effectively targeted, and diseases can be anticipated before they manifest.
Sustainable Agriculture: Understanding the genetic basis of plant susceptibility to pests, insects, and other productivity issues can bring similar benefits to agriculture. This understanding can reduce reliance on chemicals.
International Cooperation: The project, one of the world’s most significant of its kind due to its scale and the diversity it brings to genetic studies, will also benefit global science.
Advancing Genetics: Human Genome Sequencing has revolutionized genetics by providing a comprehensive map of genetic information in human DNA, enhancing our understanding of genetic diseases, hereditary traits, and human evolution.
Disease Understanding: Genome sequencing has illuminated the genetic basis of numerous diseases, including cancer, rare genetic disorders, and complex conditions like diabetes and cardiovascular diseases.
Identifying Genetic Diseases: Genome sequencing has enormous potential in the field of genetic diseases. It has been instrumental in identifying the rise in cases of diseases like Sickle cell anaemia, thalassemia, etc., in India.
Evolutionary Insights: Genome sequencing 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 diseases for individuals, leading to the development of personalised medicine.

India’s contributions to Genome Sequencing research

Regulatory Policies: Over the years, India has established stringent regulatory policies to supervise research and applications in the field of genomics and genetics.
Genetic Testing Evolution: In the past decade, genetic testing in India has made significant strides, evident from the proliferation of genomic databases like Index-DB and the Indian Genetic Disease Database (IGDD).
Mapmygenome Project: Established in 2013 with a vision to “Touch 100 million lives”, Mapmygenome marked the advent of improved healthcare through genomics-based healthcare. It also provides regular health checks and Covid testing along with Genomics in Hyderabad, Delhi, and Bangalore.
Genome India Project: Inspired by the Human Genome Project, the Department of Biotechnology (DBT) launched the ambitious “Genome India Project” (GIP). The GIP aims to collect 10,000 genetic samples from citizens across India to build a reference genome.
IndiGen Initiative: The IndiGen initiative, undertaken by CSIR in April 2019, aims to enable genetic epidemiology and develop public health technology applications using population genome data. This has facilitated the benchmarking of the scalability of genome sequencing and computational analysis at a population scale within a defined timeline.

Advantages of Genome India Project

Studying Genetic Diversity: India’s diverse genetic makeup, with over 4,635 anthropologically defined population groups, adds complexity and richness to the dataset.
Rich Dataset: The project has successfully created a reference genetic database and a biobank containing blood samples from across the country.
Reference Genetic Database: The completion of sequencing 10,000 genomes culminates in the establishment of a ‘reference’ Indian human genome, which serves as a foundational template offering insights into the genetic makeup of the population.
Database Storage: The project generated an extensive dataset of 8 petabytes, requiring 80 GB storage for each sequence, making the dataset accessible to researchers.
Digital Public Good: The data, stored at the Indian Biological Data Centre in Faridabad, serves as a “digital public good,” aiming to foster advancements in diagnostics, therapies, and disease understanding.
Personalised Healthcare: Specific genetic mutations have been identified within the Indian population. For example, the MYBPC3 Mutation, associated with cardiac arrest occurring at a young age, is found in approximately 4.5% of the Indian population. The LAMB3 Mutation, leading to a lethal condition, is present in nearly 4% of the population near Madurai, Tamil Nadu.
Drug Discovery: The database can contribute to the development of new diagnostics and potentially identify resistance-indicating variants.
mRNA Vaccines: mRNA vaccines are based on genetic mutations and identifying populations with specific resistance or susceptibility to certain medicines.
Gene Therapy Advancements: The database holds immense potential for understanding genetic predispositions to diseases like cancer and lung diseases. It is also considered vital in comprehending infectious diseases like COVID-19.
Indigenization: The project addresses the unique genetic challenges by deploying Indian solutions using Indian data for Indian problems, showcasing the country’s commitment to utilizing its diversity for scientific advancements.
Technological Advancement: The Genome India Project highlights the remarkable progress in genomic sequencing technology. While the first whole genome project required 13 years and 3 billion dollars to complete, this project was completed in 3-4 months.

Challenges and concerns

Cost of Medicines: Despite advancements in genome sequencing, the accessibility and affordability of medicines for rare genetic conditions remain a challenge due to the new complexities it has opened up.
Monogenic Diseases: The Human Genome Project, completed in 2003, promised to pave the way for personalized medicine by decoding the secrets of the genome. However, it was revealed in subsequent decades that only a small fraction of diseases are monogenic (caused by a single gene).
Privacy Concerns: There are issues related to the disclosure and management of incidental and secondary findings from genome sequencing.
Data Management: The massive dataset generated by genome sequencing (8 petabytes) poses significant challenges in terms of storage, management, and data security.
Genetic Discrimination: The project’s dataset may be affected by underrepresentation of some regions or ethnic groups, leading to potential genetic discrimination.
Limited Representation: While sequencing 10,000 genomes is a significant achievement, it may not fully capture the immense genetic diversity present in India’s population of 1.4 billion people, which includes over 4,600 distinct groups.
Scientific Racism: The Genome India Project (GIP) raises concerns about the potential for scientific racism and the reinforcement of stereotypes based on heredity and racial purity.
Data Privacy: In the absence of a comprehensive data privacy bill in India, the project raises questions about data privacy and storage, and concerns about the possible misuse of genetic information collected by the GIP cannot be overlooked.
Ethical Concerns: The project raises ethical questions about the potential for doctors to privately perform gene modification or selective breeding. The sentencing of a scientist in China in 2020, who created the world’s first gene-edited babies, highlights the seriousness of these concerns.
High Targets, Low Capacity: The aim was to sequence at least 5% of the samples, the minimum required to keep track of the virus variants. However, this has so far been only around 1%, primarily due to insufficient reagents and tools necessary to scale up the process. The ten laboratories together can sequence about 30,000 samples a month, or 1,000 a day, six times less than what is needed to meet the target.
Sample Collection; The healthcare system is already overstretched, and sorting and packaging samples and RNA preparations regularly for shipping in a cold chain to sequencing centres, along with recording extensive metadata to make sequence information useful, is an additional task for them.

Way forward

Genetic Diversity: The project enables India to leverage its vast genetic diversity, a result of historical large-scale migrations, thereby significantly enriching the existing knowledge about the human species.
Progress in Medicine: This initiative showcases India’s advancements in gene therapies and precision medicine, and its transition towards emerging next-generation medicine. This progress opens up possibilities for greater customization, safety, and earlier detection of diseases.
Ethical Conduct and Privacy: It’s crucial that the Genome India Project is conducted with adequate safeguards to ensure ethical conduct, respect for individual privacy, and human rights.
Potential Advancements: The project holds the potential to advance biotechnology, agriculture, and healthcare in India. However, it should be approached with both speed and caution to ensure that privacy concerns are addressed, potential misuse of data is prevented, and medical ethics are upheld.

Conclusion

The Genome India Project, a significant scientific initiative, has successfully sequenced 10,000 Indian genomes, creating a comprehensive catalogue of genetic variations unique to India. This project holds the potential to revolutionize healthcare through precision medicine, enabling the identification and treatment of genetic disorders. Furthermore, it can enhance agriculture by identifying genes and genetic variations. The project exemplifies the power of science to unravel 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.

Source: The Hindu

Practice Question

Discuss the potential of the Genome India Project in revolutionizing healthcare and agriculture in India. Also, elaborate on the ethical and privacy concerns associated with the project. (250 words)

How to approach this question?

Introduction (20 words)

Start with a brief introduction about the Genome India Project, its objectives, and its significance in the context of India’s genetic diversity.

Body (100 words)

Discuss the potential of the Genome India Project in revolutionizing healthcare and agriculture in India.
Highlight how the project can lead to advancements in precision medicine, identification and treatment of genetic disorders, and enhancement of agriculture through genetic studies.
Elaborate on the ethical and privacy concerns associated with the project.
Discuss the issues related to data privacy, potential misuse of genetic information, and the ethical implications of gene modification or selective breeding.

Conclusion (30 words)

Conclude by summarizing the potential benefits and challenges of the Genome India Project.
Highlight the importance of addressing the ethical and privacy concerns while harnessing the potential of the project for the advancement of healthcare, agriculture, and biotechnology in India.
Emphasize the need for a balanced approach that ensures the responsible application of this technology.

Remember to provide a balanced answer, incorporating relevant facts and figures, and propose feasible solutions. Structure your answer well, with a clear introduction, body, and conclusion. Also, ensure that your answer is within the word limit specified for the exam. Good luck!

Genome India Project

Introduction