Source: The Hindu
Manifest pedagogy: Genetics and biotechnology are such areas from which we can expect decent number of conceptual questions in Prelims and generalist questions in Mains. This is area would fetch sure shot marks with little preparation. Hence, we advice aspirants to prepare this section well.
In news: The Council of Scientific and Industrial Research (CSIR) recently announced the conclusion of a six-month exercise of conducting a “whole-genome sequence” of 1,008 Indians.
Placing it in syllabus: S&T developments
- What is Gene Sequencing?
- Gene Sequencing projects across world
- India’s Indigen project and other projects
- Prospects of gene Sequencing
- Issues with gene sequencing
What is Gene Sequencing?
- A genome is the DNA or sequence of genes in a cell.
- Most of the DNA is in the nucleus and intricately coiled into a structure called the chromosome.
- Every human cell contains a pair of chromosomes, each of which has three billion base pairs or one of four molecules that pair in precise ways
- The order of base pairs and varying lengths of these sequences constitute the “genes”.
- Sequencing a genome means deciphering the exact order of base pairs in an individual.
- It has been known that the portion of the genes responsible for making proteins called the exome occupies about 1% of the actual gene.
- The genome has to be mapped in its entirety to know which genes of a person’s DNA are “mutated”.
Gene Sequencing projects across world:
- The UK was the first to launch a program called Genomics England which aims to sequence up to 100,000 whole genomes from patients with rare diseases, their families, and cancer patients.
- Australia is working on the 4-year 100,000 Genomes Project, sequencing patients with rare diseases and cancer to create a massive database for R&D.
- Estonian Genome Project Foundation collected data from 52,000 adult donors by February 2014 and in March, 2019 has offered a further 100,000 people free genetic testing.
- In the USA, the Precision Medicine Initiative (PMI), with its 1-million-volunteer health study, is gathering a large database of health data including genetics and lifestyle factors. The Mayo Clinic (American non-profit academic medical center) will analyze and store one million blood and DNA samples.
- In 2016, France announced the “France Médecine Génomique 2025” program, aiming to open 12 sequencing centers and ensure 235,000 whole genome sequencing (WGS) a year which can be used as diagnostics tool.
- The non-profit consortium GenomeAsia 100K decided to generate genomic data for Asian populations. Supporters of the initiative include genomics companies Macrogen in Korea and MedGenome in India, as well as Illumina.
- The Qatar Genome Program aims to establish the Qatari Reference Genome Map by sequencing 3,000 whole genomes, which accounts for around 1% of the Qatari population.
- In 2010, the BGI genomics institute in Shenzhen, China hosted a higher sequencing program which aims at sequencing one million human genomes and will include subgroups of 50,000 people, each with specific conditions such as cancer or metabolic disease.
India’s Indigen project and other projects:
- The CSIR project is part of a programme called “IndiGen”.
- Though CSIR first sequenced an Indian genome in 2009, only now it has been able to scale up whole-genome sequencing and offer them to the public.
- The driving motive of the project is to understand the extent of genetic variation in Indians, and learn why some genes linked to certain diseases based on publications in international literature does not always translate into disease.
- Under “IndiGen”, the CSIR drafted about 1,000 youth from a pool of about 5,000 and included representatives from every State and diverse ethnicities.
- Every person whose genomes are sequenced would be given a report.
- The participants would be informed if they carry gene variants that make them less responsive to certain classes of medicines.
- The project involved the Hyderabad-based Centre for Cellular and Molecular Biology (CCMB), the CSIR-Institute of Genomics and Integrative Biology (IGIB).
- The project ties in with a much larger programme Genome India project,
Genome India project:
- It is funded by the Department of Biotechnology (DBT) to sequence at least 10,000 Indian genomes.
- 22 partner organisations including public health institutions will be roped in that have obtained regulatory ethical clearances.
- Investigators in hospitals will lead the data collection through a simple blood test from participants and the information will be added to bio banks.
- The project will aim to make predictive diagnostic markers available for some priority diseases such as cancer and other rare and genetic disorders.
- The department has also initiated an outreach programme to provide genetic diagnosis and counselling to families affected by common genetic disorders in certain districts.
- Sequoia-backed MedGenome, a start-up is planning to fund its own research in the area of DNA sequencing and precision medicine, with an aim to licence the findings to biotechnology firms and drug makers.
- Launched in 2013, San Francisco- and Bengaluru-based MedGenome Labs Pvt. Ltd has a network of Next Generation Sequencing (NGS) laboratories in India, Singapore and the US.
- Its research is in four main areas: cancer immunotherapy, inherited diseases, diabetes and ophthalmology.
- About 70% of the company’s revenue is earned from project-based research mainly for US-based pharmaceutical clients, while the rest is from consumer diagnostic tests in Asia.
- Its labs combine state-of-the-art testing equipments and powerful computers to perform DNA sequencing that is used for a wide variety of purposes such as biomarker discovery, drug research and new market discovery.
Prospects of gene Sequencing:
- Determining unique genetic traits, susceptibility and resilience to diseases.
- For new advancements in medical science like predictive diagnosis and precision medicine, genomic information is the backbone.
- The technique has allowed drug makers to come up with medicines that work on a select group of individuals based on similar genetic makeup, as against generic drugs used with little success so far.
- With the help of DNA sequencing, healthcare practitioners are using the new technique called cancer immunotherapy to treat cancer where the patient’s genes are altered to help his or her immune system fight cancer cells.
- The common early onset disorders with “complex” inheritance like asthma, type-1 diabetes mellitus, and the epilepsies and behavioural phenotypes of autism and attention deficit hyperactivity disorder can be understood.
Issues with gene sequencing:
- Synthetic human genome could be created which will be against the law of nature.
- Morality of eugenics, which is the theory and practice of improving the genetic quality of the human population.
- Danger of genetic misuse.
- Biosafety and biosecurity concerns related to implications of technology.
- Selection of genes for specific traits might change the dynamics of genes and alter the ecological balance.
- Agencies that fund large genomic initiatives have tended to treat the data these projects produce as a community resource to be made publicly available before thorough analysis by the consortia that generate them which violates privacy.
- The inability to anticipate the types of benefits and risks associated with future research using donated biological materials raises major ethical worries.
- By its very nature, a fully or partially sequenced individual genome can reveal information about genetically based or -contributed characteristics that is unknown to the participant.
- Where targeted populations comprise organized cultural entities like different tribes consultation demonstrates respect for the moral authority of those communities. Community consultation or engagement, however, should not be mistaken for community consent nor does every medical-sequencing project or every population warrant advance consultation.