@article{2f5ca62e722a4d0887a5029c24ab0650,
title = "Toward a fine-scale population health monitoring system",
abstract = "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.",
keywords = "biobanks, computational genomics, electronic health records, genetic ancestry, genomic medicine, health disparities, machine learning, population health",
author = "{CBIPM Genomics Team} and {Regeneron Genetics Center} and Belbin, {Gillian M.} and Sinead Cullina and Stephane Wenric and Soper, {Emily R.} and Glicksberg, {Benjamin S.} and Denis Torre and Arden Moscati and Wojcik, {Genevieve L.} and Ruhollah Shemirani and Beckmann, {Noam D.} and Ariella Cohain and Sorokin, {Elena P.} and Park, {Danny S.} and Ambite, {Jose Luis} and Steve Ellis and Adam Auton and Bottinger, {Erwin P.} and Cho, {Judy H.} and Loos, {Ruth J.F.} and Abul-Husn, {Noura S.} and Zaitlen, {Noah A.} and Gignoux, {Christopher R.} and Kenny, {Eimear E.}",
note = "Funding Information: Research reported in this paper was supported by the Office of Research Infrastructure of the National Institutes of Health under award numbers S10OD018522 and S10OD026880. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Conceptualization, G.M.B. C.R.G. N.A.Z. A.A. and E.E.K.; methodology, G.M.B. R.S. C.R.G. J.A. N.D.B. A.C. and E.E.K.; formal analysis, G.M.B. S.C. S.W. E.S. D.T. and B.S.G.; resources, E.E.K. J.H.C. E.P.B. R.J.F.L. and Regeneron Genetics Center; data curation, G.M.B. E.S. S.E. and A.M.; writing – original draft, G.M.B. N.A.Z. C.R.G. and E.E.K.; review and editing, G.M.B. B.S.G. N.D.B. E.S. N.A.H. E.P.S. N.A.Z. C.R.G. and E.E.K.; visualization, G.M.B. S.C. S.W. and D.T.; funding acquisition, E.E.K. N.S.A.-H. was previously employed by Regeneron Pharmaceuticals and has received a speaker honorarium from Genentech. E.E.K. has received speaker honoraria from Illumina and Regeneron Pharmaceuticals. S.W. is currently employed at Tempus. A.M. is currently employed at Regeneron. E.P.S. is currently employed at Calico. D.S.P. is currently employed at Ancestry. A.A. is currently employed at 23&Me. The remaining authors declare no competing interests. Funding Information: Research reported in this paper was supported by the Office of Research Infrastructure of the National Institutes of Health under award numbers S10OD018522 and S10OD026880 . The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Publisher Copyright: {\textcopyright} 2021 Elsevier Inc.",
year = "2021",
month = apr,
day = "15",
doi = "10.1016/j.cell.2021.03.034",
language = "English (US)",
volume = "184",
pages = "2068--2083.e11",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "8",
}