The UK is in the unique position of having lifelong electronic health records (EHRs) for a population of over 65 million people through the NHS. Combined with the rapid advancement of genomic medicine and diagnosis, this presents an enormous opportunity to unite these sources and answer challenging questions about many different diseases.

The Molecules to Health Records programme aims to achieve the integration of biology, biomedicine and population health sciences.

“Over the next five years, the Molecules to Health Records team will seek to help unlock the potential of large-scale bioresources that contain multi-dimensional data from many diverse populations and patient groups. By bringing together information on genomics, other molecular traits, and electronic health records at scale, the team aims to provide major new actionable insights into the causes of important health conditions.” – Programme co-directors Professor John Danesh and Professor Sarah Lewington

    • Population systems genomics and EHRs: Researchers aim to uncover hidden connections between seemingly unrelated health conditions by analysing genetic and molecular data from EHRs in long-term population studies. This will improve the way we prioritise potential treatment targets and could help accelerate the translation of research findings into therapies. This builds on the HDR UK Multi-omics Cohorts Consortium.
    • Genomic medicine and EHRs: The team will continue the existing partnership with Genomics England which looks at rare diseases. One core aim of the work is to enrich and enhance the longitudinal health-related data within the Genomics England Trusted Research Environment (TRE) by linking additional data sources and types.
    • Molecular informatics tools and resources: Molecular tools such as polygenic scores (PGSs) – a measure of your risk of disease based on your genetics – have the potential to improve healthcare. Researchers aim to develop and validate more equitable PGSs across a range of common diseases to address ethnic bias and quantify performance in healthcare. The team will also explore the develop PGSs for traits that could accelerate medicines development.
    • Diverse and global cohorts: The team will look at world-wide evidence from cohort studies in Bangladesh, India, and Malaysia to consider the major causes of NCDs, leveraging the environmental and genetic diversity in these populations to strengthen understanding of risk factors, especially in low- and middle-income countries (LMICs)