Transforming drug development using UK Biobank genetic and proteomic data

Through the UK Biobank, Bristol Myers Squibb is contributing to the release of invaluable genetic sequencing and proteomic data that can aid drug discovery and potentially improve patients’ lives.


The UK Biobank (UKB) is a large-scale biomedical database and research resource, containing in-depth genetic and health information from half a million UK participants. Through the UK Biobank-Exome Sequencing Consortium (UKB-ESC),DNA sequencing data has been linked to existing genetic and lifestyle data within the database, enabling researchers to produce new health insights to aid the discovery of new treatments.

Bristol Myers Squibb is one of nine biopharma companies that make up the UKB-ESC and to date, the medical community has access to de-identified exome sequencing data for more than 450,000 UKB participants.

“These large resources allow us to perform target discovery, target characterisation and prioritisation analyses, and mechanistic studies,” said Joe Szustakowski, Vice President, Translational Bioinformatics. “The UK Biobank is an incredible resource with a rich collection of data, including demographics, medical history, health outcomes, and lifestyles. In addition, the UKB and its partners continue to generate new data including imaging, genetics, protein and metabolomic biomarkers. The data are longitudinal in nature, which enables a multitude of analyses that are just not possible in smaller data sets.”

This research enables the scientific community to better understand the underlying mechanisms of diseases, identify novel drug targets, and generate testable hypotheses about which patients are most likely to benefit from certain treatments. An analysis of the initial data and its potential value in drug development is published in the journal Nature Genetics. The final data set, published in July 2022, is available to approved researchers through the cloud-based UKB Research and Analysis Platform.

“One of our top priorities is to identify novel drug targets. If you can find a gene that is associated with a disease or other phenotype of interest, that may suggest that given gene or its protein product is a potential drug target,” Szustakowski said. “We also use these data to characterise and prioritise targets. This allows us to predict the potential biological consequences of targeting a specific element. These approaches will help to more deeply investigate our portfolio and help address unmet medical needs.”

Joseph Szustakowski

Joseph Szustakowski, Vice President, Translational Bioinformatics at Bristol-Myers Squibb

Bristol Myers Squibb is also a member of the biopharmaceutical consortium that commissioned the Pharma Proteomics Project (PPP), a study to measure circulating concentrations of around 3,000 plasma proteins in approximately 53,000 UKB participants. The data from the study will enable research into the association between genetic variation and circulating protein levels, which in turn, will help to understand the links between genetics and human disease and support innovative drug development. The de-identified dataset will be added to the UK Biobank research resource and be made available to all approved researchers.

BMS is proud to contribute to these unique research collaborations, in association with UK BioBank, and have the opportunity to participate in invaluable research identifying new scientific insights, driving innovation.

Read the full article, “Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank,” from Nature Genetics here.


November 2022

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