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The UK Biobank Exome Sequencing Consortium (UKB-ESC) continues to advance human genetic research

The UKB-ESC research team has published a paper that explains how the collaboration between the UK Biobank and biopharmaceutical companies is informing drug discovery.

The probability of a drug candidate proceeding from phase I clinical trials through to approval and launch is around 10%. Nevertheless, human genetic information is increasingly being used to improve success in drug discovery. Evidence has shown that drug-target pairs with human genetic evidence are over twice as likely to reach approval than those without. Genetics has also been proven to bring more precision to drug development, particularly in the context of large trials.

It is unsurprising that several frameworks for the systematic evaluation of genetically motivated targets have been developed. A biobank is a collection of biological samples or data used in research. Recently, large-scale biobanks have emerged, partly due to the widespread adoption of electronic health records, and also the development of computational technologies that are capable of population-scale sequencing and analysis. This presents a huge opportunity for the scientific community to utilise these platforms and accelerate the use of human genetics to inform drug discovery.

The UK Biobank Exome Sequencing Consortium (UKB-ESC)

The UK Biobank is a large-scale biomedical database that contains in-depth health and genetic information of half a million people in the UK. The data is globally accessible to approved researchers investigating life-threatening diseases and has been a major contributor to several scientific discoveries that have improved human health.

The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a public partnership between the UK Biobank and eight biopharmaceutical companies. Together, they are focused on generating whole-exome sequencing (WES) data for all 500,000 participants of the UK biobank. The exome is the protein-coding region of the genome and is enriched with variants that are particularly valuable for drug discovery. To date, exome data is available for over 200,000 people, including 10 million exonic variants.

Recently, a paper has been published that highlights the key features of this collaboration:

  • A large dataset with rich phenotypic characterisation was built.
  • This provided researchers with the opportunity to derive both academic and commercial value from the data in an unprecedented way.
  • The data access provided insight for therapeutic-focused scientists and R&D stakeholders within the collaborating institutions.
  • The broadest possible suite of research projects were enabled due to constructive engagement with academic partners, as well as low-friction data-sharing terms.

Prospect of biobanks

The Wellcome Trust Case Control Consortium (WTCCC) is a group of 50 research organisations that was established in 2005. Since then, the WTCCC has shifted the field from candidate gene studies, which focus on pre-specified genes of interest, to genome-wide association studies. Large-scale biobanks are an even more unbiased approach for understanding the biological consequences of genetic variation because they provide longitudinal phenotypic data that can be linked to genetic data.

The UKB-ESC collaboration has strengthened the ties between academia and industry. It has also provided teams with an opportunity to engage with the wider research community. Moreover, the UKB-ESC design allows for recontact of participants to enrol them in new science research projects. This is a highly valued feature for answering new questions that arise from the data because researchers can reach out to groups of specific and well-characterised individuals.

Collaborations that result in the collection of a wide variety of data and allow several hypotheses to be tested, such as the UKB-ESC, are a resource that will continue to drive innovative biomedical research. Ultimately, these large-scale biobanks generate unique resources that can be accessed by a diverse community of scientists to address questions that are essential for advancing human health.

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More on these topics

Biobank / drug discovery / Pharma Industry

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