Toward a fine-scale population health monitoring system.

Databases, Genetic Electronic Health Records Ethnicity / genetics Genomics Humans Population Health Self Report
biobanks computational genomics electronic health records genetic ancestry genomic medicine health disparities machine learning population health

Journal

Cell
ISSN: 1097-4172
Titre abrégé: Cell
Pays: United States
ID NLM: 0413066

Informations de publication

Date de publication:
15 04 2021
Historique:
received: 23 09 2019
revised: 18 11 2020
accepted: 12 03 2021
entrez: 16 4 2021
pubmed: 17 4 2021
medline: 21 10 2021
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.cell.2021.03.034 PMID: 33861964
pubmed: 33861964
pii: S0092-8674(21)00365-2
doi: 10.1016/j.cell.2021.03.034
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

2068-2083.e11

Subventions

Organisme : NIH HHS
ID : S10 OD026880
Pays : United States
Organisme : NIH HHS
ID : S10 OD018522
Pays : United States

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2021 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests 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.

Auteurs

Gillian M Belbin (GM)

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Sinead Cullina (S)

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Stephane Wenric (S)

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Emily R Soper (ER)

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Benjamin S Glicksberg (BS)

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Denis Torre (D)

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Arden Moscati (A)

The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Genevieve L Wojcik (GL)

Department of Biomedical Data Science, Stanford University, Stanford, CA 94305, USA.

Ruhollah Shemirani (R)

Information Science Institute, University of Southern California, Marina del Rey, CA 90089, USA.

Noam D Beckmann (ND)

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Ariella Cohain (A)

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Elena P Sorokin (EP)

Department of Biomedical Data Science, Stanford University, Stanford, CA 94305, USA.

Danny S Park (DS)

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94158, USA.

Jose-Luis Ambite (JL)

Information Science Institute, University of Southern California, Marina del Rey, CA 90089, USA.

Steve Ellis (S)

The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Adam Auton (A)

Department of Genetics, Albert Einstein College of Medicine, New York, NY 10461, USA.
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Regeneron Genetics Center, Tarrytown, New York, NY 10591, USA.

Erwin P Bottinger (EP)

Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Judy H Cho (JH)

The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Ruth J F Loos (RJF)

Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Noura S Abul-Husn (NS)

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Noah A Zaitlen (NA)

Department of Neurology, University of California, Los Angeles, Los Angeles, CA 90033, USA.

Christopher R Gignoux (CR)

Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Eimear E Kenny (EE)

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address: eimear.kenny@mssm.edu.

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Classifications MeSH

questionsmedicales.fr › Sciences de l'information › Mémorisation et recherche des informations › Bases de données comme sujet › Bases de données factuelles › Bases de données génétiques › Toward a fine-scale population health...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Documents › Dossiers médicaux › Systèmes informatisés de dossiers médicaux › Dossiers médicaux électroniques › Toward a fine-scale population health...
questionsmedicales.fr › Caractéristiques de la population › Ethnies › Toward a fine-scale population health...
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génomique › Toward a fine-scale population health...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Toward a fine-scale population health...
questionsmedicales.fr › Caractéristiques de la population › Santé › Santé de la population › Toward a fine-scale population health...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enquêtes et questionnaires › Autorapport › Toward a fine-scale population health...