Standard disease classification and defining human phenotypes are incomplete and imprecise because biological mechanisms underpinning human diseases and phenotypes are not yet captured even with different coding systems and methods. Such methods are arbitrary (e.g., hypertension), based on a location or organ (e.g., tumors), or have been used since physicians originally described certain diseases (e.g., Alzheimer’s diseases) over a century ago, which cause confusion and uncertainty in diagnosis, drug discovery and medical care. In this analysis, we used the UK Biobank linked to primary care electronic health records (EHR) data to identify and reclassify skin-aging related phenotypes in 502,505 participants. Using EHR-based phenotyping, we improved our phenotype classification and increased sample size up to 40 times more than using any given combinations of ICD10 from disease data curation. For instance, we identified 9,327 individuals with dry skin (an increase from 219 patients using ICD10 codes only) and demonstrated that dry skin is associated with environmental exposures (air pollution, P=0.002) and lifestyle factors (trouble falling sleep, P=2.7×10-11 and smoking, P=5.5×10-6). Given that clinical information spanning several decades is available through EHR repositories, the use of EHR-based deep phenotyping can provide value beyond our current understanding of disease and phenotype classification and clinical research. Future research from this group will explore the value of deep phenotyping by applying machine learning approaches to big data and further develop genome-wide association analysis.

ESDR079 - Applying human phenomics to electronic health records provides a framework for understanding skin-aging related phenotypes

The scientific meeting of the European Society for Dermatological Research (ESDR) is held yearly, usually in September. With an international attendance of more than 1000 skin scientists from around the globe, the four-day event includes short oral presentations from peer-reviewed abstracts, keynote lectures from international experts, sponsored symposia, satellite programs, educational events as well as an important focus on posters, networking and building collaborations amongst scientists. For more information about this year’s meeting visit our website.