Unlocking Precision Medicine at Scale: From Genomic Interactions to Pharmacogenomics
Pharmacogenomics and Global Data Infrastructures
• Understanding how genetic epistasis contributes to disease risk is a key challenge in complex disease. We have utilised our cloud-based machine learning tools, VariantSpark and BitEpi to identify novel genetic interactions in multiple phenotypes, including CAD and AD across the UK Biobank and TopMed cohorts. These interactions enable us to provide more powerful disease risk prediction.
• Pharmacogenomics represents a critical bridge between genomic discovery and clinical impact. We are developing approaches to interpret pharmacogenomic information in the context of an individual’s broader genetic susceptibilities and resilience factors, applying multi-modal AI predictors of drug response across diverse populations. This work will support patient stratification, reduce adverse drug reactions, and help deliver equitable personalised medicine.
• We have further translated our precision medicine research into clinical impact through TRECA, a cloud-native Trusted Research Environment developed with the United Nations Development Programme and Indonesia’s Ministry of Health. TRECA enables secure use of genomic data for personalised diagnostics and decision support, while transitioning data into an air-tight digital vault that protects sensitive information and supports federated research to advance precision medicine globally