RARE Daily

UK Biobank Achieves Milestone with 500,000 Genomes

November 30, 2023

Rare Daily Staff

The UK Biobank released new data from whole genome sequencing 500,000 people, data expected to drive the discovery of new diagnostics, treatments, and cures.

The de-identified data is now available to approved researchers worldwide. The UK Biobank said while the volume of genomic data is unparalleled, what make it a defining moment for the future of healthcare is its use in combination with the existing wealth of data UK Biobank has collected over the past 15 years on lifestyle, whole body imaging scans, health information, and proteins found in the blood.

To date, more than 30,000 researchers from more than 90 countries have registered to use UK Biobank, with over 9,000 peer-reviewed papers published as a result. Researchers are given the tools and computing power to analyze the de-identified data via UK Biobank’s secure, cloud-based Research Analysis Platform.

“This is a veritable treasure trove for approved scientists undertaking health research, and I expect it to have transformative results for diagnoses, treatments and cures around the globe,” said Rory Collins, principal investigator for the UK Biobank. “The sheer amount of genetic data is exceptional – it is twice as much as anywhere else—but UK Biobank’s data is so illuminating because we’ve been able to follow the health of our brilliant volunteers for around 15 years.”

The data is expected to help make advances on the understanding and diagnosis of rare diseases. The UK Biobank said many serious and rare diseases are caused by single, rare genetic changes which are difficult to detect in smaller populations. However, the scale of the whole genome sequencing data means that the likelihood of finding these rarer variants is increased.

It is also expected to fuel drug development for both rare and common diseases by enabling researchers to discover potential drug targets by exploring genetic variation in individuals who are at high risk of a particular disease.

“This ground-breaking dataset allows scientists to explore how genetics affect levels of proteins, metabolites and other physiological factors, more closely than ever before, promising to accelerate our understanding of the genetic underpinnings of disease,” said David Reese, executive vice president R&D, Amgen.

The scale of the whole genome sequencing data allows researchers to understand disease risk in greater detail than ever before. Scientists will be able to look at the cumulative risk from many different genetic variants that together can have dramatic effects on disease risk. In doing so, they can more easily identify individuals who have a genetically higher risk for a particular disease or trait. The early identification of at-risk individuals for certain diseases can guide preventative measures.

“This landmark dataset will enable us to leverage the power of artificial intelligence and machine learning for rapidly identifying novel disease targets and helping researchers predict how a candidate medicine might impact certain subpopulations of patients, based on their genetics,” said John Reed, executive vice president for Innovative Medicine R&D at Johnson & Johnson. “This could pave the way for more efficient clinical development and drive progress toward precision medicine.”

Photo: Rory Collins, principal investigator for the UK Biobank

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