The transformative benefits of population-level genome sequencing (GS Paper 3, Science and Technology)
Why in news?
- Recently, the UK announced the completion of half a million whole-genome sequences, almost 0.7% of its population.
- Such data-sets are transformative, with far-reaching implications for both immediate and long-term advancements in the biological sciences.
The deCODE initiative:
- An early effort to use large-scale population genetic studies was initiated in Iceland by deCODE genomics in 1996, with most of the Icelandic population enrolling for genetic studies in around a decade’s time.
- The initiative, along with the democratisation of sequencing technologies, provided the initial impetus for programmes that wished to use population-scale genomic data for precision medicine and public health.
- The deCODE effort considerably improved nderstanding of the genetics of diseases and the utility of such data in risk assessment.
- It also contributed significantly to the methods, infrastructure, and standards with which researchers handle large-scale genomic data and set up discussions on their bioethics.
- The project also laid the groundwork to integrate medical records and people’s genealogies, resulting in new drugs and therapeutics.
Ongoing genome projects:
- deCODE’s success plus the wider availability of sequencing technologies gave rise to a number of population-scale genome initiatives around the world, including many pilot programmes initiated in the last decade.
- A recent initiative by the pharmaceutical companies Regeneron Genetics Center, AstraZeneca, Novo Nordisk, and Roche, along with the Meharry Medical College, Tennessee, has even planned to sequence more than five lakh individuals of African ancestry through the Diversity Human Genome Initiative.
- Many large-scale genome programs are currently underway, including the AllofUS programme in the U.S., which will collect genetic information of a million people with funding from the National Institutes of Health.
- The European Union recently launched the ‘1+ Million Genomes’ initiative.
- A ‘Three Million African Genomes’ is also currently in the works, as is the Emirati genome programme’s scheme to sequence more than a million samples (more than 400,000 have already been completed).
Diverse objectives:
- Many programmes take advantage of a unique population composition to understand disease prevalence and biomarkers for diseases, and use that to inform the discovery of novel therapeutic targets.
- Other efforts seek to build scalable public-health initiatives where genomic data is used in decision-making and medical care.
- For example, according to one estimate, 18.5% of the UK’s 100K initiative was actionable, translating to direct healthcare benefits to participants.
Challenges:
- There are new challenges, especially with regard to the ethics of and the access to these genomes, and the discoveries that build on them.
- There are also significant concerns regarding the equitable representation and access to the fruits of discoveries (e.g. over-representation of certain ethnic groups in population-scale data sets).
- Countries like the U.S. have also proactively created regulatory frameworks to prevent the misuse of genetic data, such as to prevent insurance and employment discrimination, using the terms of the Genetic Information Non-discrimination Act.
Genomes from India:
- Asia, and India, are not far off vis-à-vis population-level sequencing either. The GenomeAsia project, led by multiple partners across the continent, plans to sequence a lakh whole genomes from diverse populations.
- An initial pilot data set with whole genomes of 1,739 individuals belonging to 219 population groups in 64 countries was published in 2019.
- A pilot programme for population genomes in India named IndiGen provided an early view of more than a thousand genomes of individuals from cosmopolitan areas in India.
- It also yielded some clues to the landscape of many treatable genetic diseases and variants of clinical significance, including the efficacy and toxicity of drugs and the prevalence of rare disorders. A larger programme to sequence 10,000 whole genomes from diverse population groups is in the works under the GenomeIndia initiative.
Way Forward:
- Looking to the horizon, the long-term impact of population-scale genomics extends beyond individual health, shaping our comprehension of human evolution, migration patterns, and adaptation to diverse environments.
- It will also contribute significantly to our knowledge of human biology.
- In essence, population-scale genomics stands at the forefront of a genomic revolution, poised to revolutionise healthcare, illuminate our evolutionary history, and propel us towards a future in which precise, personalised approaches will influence the landscape of medical and biological understanding.
India refrains from signing COP28 Health and Climate Declaration
(GS Paper 3, Environment)
Why in news?
- India refrained from signing the COP28 Declaration on Climate and Health, curbing greenhouse gas use for cooling in the health sector, is one of the points in the document, which may not be practical or achievable within the country’s healthcare infrastructure in the short term.
Key Highlights:
- On the occasion of the first Health Day at the 28th UN Climate Change Conference (COP28), the declaration expressed grave concern about the negative impacts of climate change on health.
- The declaration is signed by 124 countries till now with the US and India, which are among the top greenhouse gas emitters, absent from the list of signatories.
- The declaration calls for climate action to achieve benefits for health from deep, rapid, and sustained reductions in greenhouse gas emissions, including from just transitions, lower air pollution, active mobility, and shifts to sustainable healthy diets.
Why India refrained?
- The declaration, aimed at addressing the critical intersection between climate change and global health, emphasises the need for swift and substantial reductions in greenhouse gas emissions.
- However, a sticking point emerged as the draft outlined a commitment to reducing greenhouse gases for cooling applications within healthcare infrastructure a measure India finds difficult to comply with.
- India had put emphasis on resilient health in its G20 declaration.
- The three health priorities of India’s G20 presidency were building a resilient healthcare system, creating a platform for improving access to medical countermeasures and creating a platform for sharing digital goods between countries.
- The COP28 Declaration underscores the importance of addressing the broad spectrum of impacts that climate change has on health.
- This includes considerations for mental health and psychosocial well-being, preservation of traditional medicinal knowledge, protection of livelihoods and cultures, and dealing with climate-induced displacement and migration.
Holistic approach:
- The declaration aims at promoting a holistic approach to understanding and mitigating the diverse health challenges posed by a changing climate.
- One of the central objectives of the declaration is the commitment to combat inequalities within and among countries.
- It emphasised the pursuit of policies that accelerate the achievement of the Sustainable Development Goals (SDGs), particularly SDG3, which focuses on good health and well-being.
- The comprehensive approach seeks to reduce poverty and hunger, improve health and livelihoods, strengthen social protection systems, enhance food security and nutrition, and ensure access to clean energy, safe drinking water, sanitation, and hygiene for all.
- Acknowledging the carbon footprint of health systems, the declaration encourages steps to curb emissions and reduce waste in the health sector.
- This includes assessing greenhouse gas emissions of health systems, developing action plans, establishing nationally determined decarbonisation targets, and implementing procurement standards for national health systems, including supply chains.
- The objective is to promote sustainable practices within the health sector to contribute to broader climate goals.
Concerns:
- As one of the leading global emitters worldwide, and the home of 1 billion of the world’s population, the absence of India from the list of over 120 countries endorsing the COP28 health declaration is striking.
