Evidence map›Paper›PMID 36119389›Full record

ArticleCell genomics2022

Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program.

Alyna T Khan, Stephanie M Gogarten, Caitlin P McHugh, Adrienne M Stilp, Tamar Sofer, Michael L Bowers, Quenna Wong, L Adrienne Cupples, Bertha Hidalgo, Andrew D Johnson and 6 more

Abstract read
In one paragraph

Article in Cell genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed, 3 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

62 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Polygenic Risk and Nutrient Intake Interactions on Obesity Outcomes: A Systematic Review and Meta-Analysis of Observational Studies.Obesity reviews : an official journal of the International Association for the Study of Obesity · 2025
    Pooled it
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  11. Polygenic Index for Sleep Duration and Brain Changes over Time.Medical sciences (Basel, Switzerland) · 2026
    Article
  12. Analyses of plasma multi-omic data across ancestries identify novel pathways implicated in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
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  20. A data model for population descriptors in genomic research.American journal of human genetics · 2025
    Review

2 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Alyna T KhanDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Stephanie M GogartenDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Caitlin P McHughDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Adrienne M StilpDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Tamar SoferDepartment of Medicine, Harvard Medical School, Boston, MA, USA.
Michael L BowersDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Quenna WongDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
L Adrienne CupplesDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Bertha HidalgoDepartment of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA.
Andrew D JohnsonPopulation Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Framingham, MA, USA.
Merry-Lynn N McDonaldDepartment of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Stephen T McGarveyDepartment of Epidemiology and International Health Institute, Brown University School of Public Health, Providence, RI, USA.
Matthew R G TaylorDepartment of Medicine, Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Stephanie M FullertonDepartment of Bioethics & Humanities, University of Washington, Seattle, WA, USA.
Matthew P ConomosDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Sarah C NelsonDepartment of Biostatistics, University of Washington, Seattle, WA, USA.

Funding

Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
Polygenic Risk Score Methods Development Consortium Coordinating CenterU01HG011697 · NHGRI · UNIVERSITY OF WASHINGTON · PI Kenneth M. Rice · 2021 to 2026
$8.8M
Integrated cellular, mouse and human research on a novel missense variant influencing adiposity in SamoansR01HL093093 · NHLBI · BROWN UNIVERSITY · PI MCGARVEY, STEPHEN T. · 2009 to 2019
$8.2M
Next Generation Association Studies of Adiposity in Samoans Enhanced by a Samoan-Specific Whole Genome Sequence Reference PanelR01HL133040 · NHLBI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Ryan Lee Minster · 2017 to 2026
$7.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
Epigenetic biomarkers of preeclampsia risk among mothers with chronic hypertensionR01HL155127 · NHLBI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI HIDALGO, BERTHA, TITA, ALAN THEVENET N. · 2022 to 2025
$2.6M
NHGRI NIH HHS U01 HG011697NHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL093093NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL133040NHLBI NIH HHS R01 HL155127NHLBI NIH HHS U01 HL120393
6 · The paper itself

Abstract

How race, ethnicity, and ancestry are used in genomic research has wide-ranging implications for how research is translated into clinical care and incorporated into public understanding. Correlation between race and genetic ancestry contributes to unresolved complexity for the scientific community, as illustrated by heterogeneous definitions and applications of these variables. Here, we offer commentary and recommendations on the use of race, ethnicity, and ancestry across the arc of genetic research, including data harmonization, analysis, and reporting. While informed by our experiences as researchers affiliated with the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, these recommendations are applicable to basic and translational genomic research in diverse populations with genome-wide data. Moving forward, considerable collaborative effort will be required to ensure that race, ethnicity, and ancestry are described and used appropriately to generate scientific knowledge that yields broad and equitable benefit.

Identifiers

PMID36119389
PMCPMC9481067

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.