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Mahesh

04/12/23 12:44 PM IST

The transformative benefits of population-level genome sequencing

In News
  • Recently, 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.
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 our understanding 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.
100K Genome project
  • It aimed to bring genomics into routine healthcare. We estimate more than a dozen countries today have genome programmes of a lakh genomes or more.
  • 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).
  • 18.5% of the UK’s 100K initiative was actionable, translating to direct healthcare benefits to participants.
Genome Asia Project
  • 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.
  • 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.
Significance
  • 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.
  • And just as the day when we will sequence a billion genomes in a single project isn’t far off, the time for an individual acquiring a right to access and understand their own genome sequence is also at hand.
Source- The Hindu

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