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Linking genetic variation with human diseases and traits to understand human biology and enable precision medicine

Safe People

Organisation name

Genomics PLC

Organisation sector

Commercial

Applicant name(s)

Vincent Plagnol

Funders/ Sponsors

Safe Projects

Project ID

OFHS240124

Lay summary

This research study will use the combination of genetic and health outcomes data that OFH has gathered to improve our understanding of how genetics influence disease risk, and our response to treatment. Such insights are necessary to drive precision medicine - the tailoring of preventive, curative and mitigating treatments to individual context and needs. Our specific aim is to use the unique scale of the data collected on OFH participants to enhance the tools and resources that Genomics plc has created by bringing together data from thousands of studies worldwide. We do this by analysing how millions of genetic variants impact health-related characteristics (e.g. blood pressure, cholesterol levels) and disease outcomes (e.g. heart disease). These correlations are analysed alongside other studies of the same type to build the most comprehensive understanding of genetic risk. One key output from the work will be an improvement to the risk prediction tools we have built that can help predict disease onset and define groups of patients that are more likely to benefit from particular treatments, hence guiding prevention and early diagnosis. This information can also be used in clinical trials to accelerate the discovery, approval, and use of new treatments. It is now well established that understanding how genetic variation impacts disease risk can guide drug development, by identifying the genes whose modulation is responsible for these changes in disease susceptibility, symptoms or progression. Genetic insights can also be aggregated across the genome to generate genetic risk scores, potentially powerful predictors of human health. However, for both avenues of research, our ability to drive advances to human health is dependent on the availability of large and diverse datasets that combine genetic data with health information. OFH provides an unprecedented resource in terms of the scale and diversity of genetic and healthcare data. We will combine summaries of OFH findings with those from other studies in different populations for the same traits and diseases. The combined findings will enable novel discoveries and improve our understanding of genetic risk, especially for common conditions, such as cardiovascular traits and cancers, that have a high disease burden in the UK population. In addition, because the OFH population effectively represents the diversity of the UK population, we will be able to test how well our genetic scores perform across a diverse set of ancestry groups.

Public benefit statement

The development of precision medicine has the potential to revolutionise healthcare. Our goal is to make precision medicine a reality, by supporting the development of new drugs that target patient groups with currently unmet need, and enhancing prevention through personalisation of risk in an equitable manner that benefits the entirety of the UK population. These goals are fully aligned with the OFH mission. We will obtain key insights from the OFH resource, unprecedented in scale and diversity, and use these to enhance existing and develop novel products that positively impact healthcare. This includes being able to inform drug development, hence delivering novel and more effective drugs. But it will also help identify the subset of the UK population that maximally benefits from an existing drug or disease screening opportunity. OFH is a step change in our collective ability to drive these innovations. Genomics will work with OFH to make the most of this unique opportunity to revolutionise multiple facets of the way healthcare is currently delivered.

Request category type

Public Health Research

Other approval committees

Project start date

07/05/2025

Latest approval date

04/11/2024

Safe Data

Dataset(s) name

Safe Setting

Access type

TRE

Safe Outputs

Link to research outputs

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