THE TRANSFORMATIVE BENEFITS OF POPULATION-LEVEL GENOME SEQUENCING

THE CONTEXT: The UK has announced the completion of half a million whole-genome sequences, almost 0.7% of its population.

ABOUT 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 provided the initial impetus for programmes that wished to use population-scale genomic data for precision medicine and public health.
• 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.
• 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.
• At first, several projects worked with hundreds to thousands of genomes, but in the last half a decade, such endeavours have leapfrogged to lakhs of genomes.

GENOME PROGRAMMES

Genome India Project (GIP): The government aims to sequence 10,000 genomes by the end of the year 2023 under the Genome India Project (GIP).

IndiGen: 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.

GenomeAsia project: The project led by multiple partners across the continent, plans to sequence a lakh whole genome from diverse populations.

• This includes a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 countries across Asia.

100K Genome: UK’s ‘100K Genome’ project, which aimed to bring genomics into routine healthcare.

Diversity Human Genome Initiative:  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.

AllofUS programme: The AllofUS programme in the U.S, which will collect genetic information of a million people with funding from the National Institutes of Health.

1+ Million Genomes: The European Union recently launched the ‘1+ Million Genomes’ initiative. It aims to enable secure access to genomics and the corresponding clinical data across Europe for better research, personalised healthcare and health policy making.

Three Million African Genomes: A human genetics project inaugurated by Ambroise Wonkam of Cape Town University in South Africa.
Emirati Genome programme: The Emirati Genome Programme is a national project which aims to use genomic data to improve the health of the Emirati population.

SIGNIFICANCE

Direct healthcare benefits: According to one estimate, 18.5% of the UK’s 100K initiative was actionable, translating to direct healthcare benefits to participants.

Significantly 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.

Understanding the genetics of diseases: The deCODE effort considerably improved our understanding of the genetics of diseases and the utility of such data in risk assessment.

Long-term impact:  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.

Knowledge of human biology: It will also contribute significantly to our knowledge of human biology.

Precise and personalized treatments: It has the potential to revolutionize healthcare by providing more precise and personalized treatments.

CHALLENGES

• They also confront 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).

WAY FORWARD

Regulatory frameworks: 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(GINA).

Restricting access to data resources: Restricting access to data resources, such as the database of genotypes and phenotypes (dbGaP)55, reduces privacy risks.

Synthetic data generation: Recently, researchers have proposed protecting anonymity by generating synthetic genomic data sets using deep learning models.

• The generated data aim to maintain utility by replicating most of the characteristics of the source data and thus have the potential to become alternatives for many genomic databases that are not publicly available or have accessibility barriers.

CONCLUSION:

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.

PREVIOUS YEAR QUESTION:

Q) What are the research and developmental achievements in applied biotechnology? How will these achievements help to uplift the poorer sections of the society? (2021)

MAINS PRACTICE QUESTION:

Q) Briefly explain the deCODE initiative. Discuss the Importance and associated challenges of genome sequencing in India.

SOURCE: https://www.thehindu.com/sci-tech/science/population-level-genome-sequencing-transformative-benefits/article67597984.ece