Personalized medicine based on deep human phenotyping

Abstract

Recent technological advances allow large cohorts of human individuals to be profiled, presenting many challenges and opportunities. I will present The Human Phenotype Project, a large-scale (>20,000 signups) deep-phenotype prospective longitudinal cohort and biobank that we established, aimed at identifying novel molecular markers with diagnostic, prognostic and therapeutic value, and at developing prediction models for disease onset and progression. Our deep profiling includes medical history, lifestyle and nutritional habits, vital signs, anthropometrics, blood tests, continuous glucose and sleep monitoring, and molecular profiling of the transcriptome, genetics, gut and oral microbiome, metabolome and immune system. Our analyses of this data provide novel insights into potential drivers of obesity, diabetes, and heart disease, and identify hundreds of novel markers at the microbiome, metabolite, and immune system level. Overall, our predictive models can be translated into personalized disease prevention and treatment plans, and to the development of new therapeutic modalities based on metabolites and the microbiome.