Artigo Acesso aberto Revisado por pares

Toward a fine-scale population health monitoring system

2021; Cell Press; Volume: 184; Issue: 8 Linguagem: Inglês

10.1016/j.cell.2021.03.034

ISSN

1097-4172

Autores

Gillian M. Belbin, Sinéad Cullina, Stéphane Wenric, Emily R. Soper, Benjamin S. Glicksberg, Denis Torre, Arden Moscati, Genevieve L. Wojcik, Ruhollah Shemirani, Noam D. Beckmann, Ariella Cohain, Elena P. Sorokin, Danny S. Park, José Luis Ambite, Ian O. Ellis, Adam Auton, Erwin P. Böttinger, Judy H. Cho, Ruth J. F. Loos, Noura S. Abul‐Husn, Noah Zaitlen, Christopher R. Gignoux, Eimear E. Kenny,

Tópico(s)

Epigenetics and DNA Methylation

Resumo

Understanding 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 and environmental factors impacting specific sub-populations. Here, we propose a framework for repurposing data from electronic health records (EHRs) in concert with genomic data to explore the demographic ties that can impact disease burdens. Using data from a diverse biobank in New York City, we identified 17 communities sharing recent genetic ancestry. We observed 1,177 health outcomes that were statistically associated with a specific group and demonstrated significant differences in the segregation of genetic variants contributing to Mendelian diseases. We also demonstrated that fine-scale population structure can impact the prediction of complex disease risk within groups. This work reinforces the utility of linking genomic data to EHRs and provides a framework toward fine-scale monitoring of population health.

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