The transformative benefits of population-level genome sequencing | Explained Premium

A revolutionary shift in genomics tech has enabled population-scale sequencing, leading to unprecedented insights into humans’ genetic diversity. UK's 100K Genome project, deCODE's Icelandic effort, Diversity Human Genome Initiative, AllofUS, 1+ Million Genomes, 3M African Genomes, Emirati genome programme, GenomeAsia, IndiGen, and GenomeIndia - all aim to sequence lakhs of genomes. Benefits include precision medicine, public health, risk assessment, new drugs, therapeutics, and understanding of diseases. Challenges include bioethics, equitable access, and misuse of data.

In the last decade, genomics has undergone a revolutionary shift with the advent of technologies that have significantly improved throughput and reduced the cost of whole-genome sequencing, giving rise to population-scale genome-sequencing programmes – where scientists decipher the complete genetic makeup of large populations, offering unprecedented insights into the intricate view and tapestry of human diversity.

This week, 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.

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.

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.

Indeed, one of the first such was the UK’s ‘100K Genome’ project, which aimed to bring genomics into routine healthcare. We estimate more than a dozen countries today have genome programmes of a lakh genomes or more. 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).