Towards a fine-scale population health monitoring system

Author:

Belbin Gillian M,Wenric Stephane,Cullina Sinead,Glicksberg Benjamin S,Moscati Arden,Wojcik Genevieve L,Shemirani Ruhollah,Beckmann Noam D,Cohain Ariella,Sorokin Elena P,Park Danny S,Ambite Jose-Luis,Ellis Steve,Auton Adam,Bottinger Erwin P.,Cho Judy H,Loos Ruth JF,Abul-husn Noura S,Zaitlen Noah A,Gignoux Christopher R,Kenny Eimear E, , ,

Abstract

AbstractUnderstanding population health disparities is an essential component of equitable precision health efforts. Epidemiology research often relies on definitions of race and ethnicity, but these population labels may not adequately capture disease burdens specific to sub-populations. Here we propose a framework for repurposing data from Electronic Health Records (EHRs) in concert with genomic data to explore enrichment of disease within sub-populations. Using data from a diverse biobank in New York City, we genetically identified 17 sub-populations, and noted the presence of genetic founder effects in 7. By then linking community membership to the EHR, we were able to identify over 600 health outcomes that were statistically enriched within a specific population, with many representing known associations, and many others being novel. This work reinforces the utility of linking genomic data to EHRs, and provides a framework towards fine-scale monitoring of population health.

Publisher

Cold Spring Harbor Laboratory

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