Editorial 1: Understanding a human pangenome map
Context
- A new study published in the May 10 issue of the Nature journal describes a pangenome reference map, built using genomes from 47 anonymous individuals mainly from Africa but also from the Caribbean, Americas, East Asia, and Europe.
Defining Genome and Genome Sequencing
- The genome is the blueprint of life, a collection of all the genes and the regions between the genes contained in our 23 pairs of chromosomes.
- Each chromosome is a contiguous stretch of DNA string.
- In other words, our genome consists of 23 different strings, each composed of millions of individual building blocks called nucleotides or bases.
- The four types of building blocks (A, T, G and C) are arranged and repeated millions of times in different combinations to make all of our 23 chromosomes.
- Genome sequencing is the method used to determine the precise order of the four letters and how they are arranged in chromosomes.
- Sequencing individual genomes helps us understand human diversity at the genetic level and how prone we are to certain diseases.
- The genome is an identity card like Aadhaar. As each of our Aadhar card is unique, so is our genome.
A reference genome
- When genomes are newly sequenced, they are compared to a reference map called a reference genome. This helps us to understand the regions of differences between the newly sequenced genome and the reference genome.
- One of this century’s scientific breakthroughs was the making of the first reference genome in 2001. It helped scientists discover thousands of genes linked to various diseases; better understand diseases like cancer at the genetic level; and design novel diagnostic tests.
- Although a remarkable feat, the reference genome of 2001 was 92% complete and contained many gaps and errors. Additionally, it was not representative of all human beings as it was built using mostly the genome of a single individual of mixed African and European ancestry. Since then, the reference genome map has been refined and improved to have complete end-to-end sequences of all the 23 human chromosomes.
Defining pangenome map
- Unlike the earlier reference genome, which is a linear sequence, the pangenome is a graph.
- The graph of each chromosome is like a bamboo stem with nodes where a stretch of sequences of all 47 individuals converge, and with internodes of varying lengths representing genetic variations among those individuals from different ancestries.
- To create complete and contiguous chromosome maps in the pangenome project, the researchers used long-read DNA sequencing technologies, which produce strings of contiguous DNA strands of tens of thousands of nucleotides long.
- Using longer reads helps assemble the sequences with minimum errors and read through the repetitive regions of the chromosomes which are hard to sequence with short-read technologies used earlier.
Importance of a pangenome map
- A complete and error-free human pangenome map will help us understand the difference between any two individuals and explain human diversity better.
- It will also help us understand genetic variants in some populations, which result in underlying health conditions.
- Even though the current map does not contain genome sequences from Indians, it will help map Indian genomes better against the error-free and complete reference genomes known so far.
Conclusion
- Future pangenome maps that include high quality genomes from Indians, including from many endogamous and isolated populations within the country, will shed light on disease prevalence, help discover new genes for rare diseases, design better diagnostic methods, and help discover novel drugs against those diseases.
Editorial 2: What is the ‘Open Network for Digital Commerce’?
Context
- The Union government is looking to formally launch the Open Network for Digital Commerce (ONDC) this year to “democratise e-commerce” and “to provide alternatives to proprietary e-commerce sites”.
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Open Network for Digital Commerce (ONDC)
- The ONDC is an open technology network based on an open protocol.
- It is a not-for-profit organisation that will offer a network to enable local digital commerce stores across industries to be discovered and engaged by any network-enabled applications.
- It is neither an aggregator application nor a hosting platform, and all existing digital commerce applications and platforms can voluntarily choose to adopt and be a part of the ONDC network.
- It aims to enable buying of products from all participating e-commerce platforms by consumers through a single platform.
- Under ONDC, it is envisaged that a buyer registered on one participating e-commerce site (for example, Amazon) may purchase goods from a seller on another participating e-commerce site (for example, Flipkart).
- The platform will allow buyers and sellers to connect and transact with each other online, regardless of what other applications they use.
- ONDC Model: It is trying to replicate the success of the Unified Payments Interface (UPI) in the field of digital payments.
- The open network concept also extends beyond the retail sector, to any digital commerce domains including wholesale, mobility, food delivery, logistics, travel, urban services, etc.
Significance of ONDC
- Standardization of Processes: ONDC protocols would standardize operations like cataloguing, inventory management, order management and order fulfilment in e-commerce.
- Bridging gap between online demand and supply: The Department for Promotion of Industry and Internal Trade (DPIIT) conducted an outreach and it found that there is a huge disconnect between the scale of online demand and the ability of the local retail ecosystem to participate.
- Democratize e-commerce: The ONDC will democratise digital commerce, moving it from a platform-centric model to an open-network.
- Breaking Monopolies: This domination by dominant players like Amazon and Flipkart restrains the interests of smaller and financially afflicted retailers. ONDC will break this monopoly.
- Empowerment and Innovation: ONDC will empower merchants and consumers by breaking silos to form a single network to drive innovation and scale, transforming all businesses from retail goods, food to mobility.
- Level Playing Field: The regulator for the ONDC, to be formed soon, will ensure level playing field and healthy competition through dispute settlement and penalties.
Challenges with ONDC
- The local business will find it extremely challenging to compete with the discounts, sales and other lucrative offers, being offered by prominent e-commerce players which may result in local business being squeezed out of the network in the long run.
- The strategy paper is silent on the issues regarding liability on the network in case consumers faced issues regarding transactions, delivery of substandard products and service.
- There is also a lack of clarity on the applicability of the existing e-commerce laws to the network.
Way forward
- The lack of digital education needs to be addressed foremost with help of different digital literacy missions of government. It is important to accommodate various languages and user-friendly interfaces for both consumers and sellers.
- The initiative should be promoted more extensively to include more small times sellers which will help enhance their livelihoods.
- A single window Grievance redressal mechanism needs to be established to deal with both demand and supply issues.