Evidence map›Paper›PMID 33692554›Full record

ReviewNature2021

Improving reporting standards for polygenic scores in risk prediction studies.

Hannah Wand, Samuel A Lambert, Cecelia Tamburro, Michael A Iacocca, Jack W O'Sullivan, Catherine Sillari, Iftikhar J Kullo, Robb Rowley, Jacqueline S Dron, Deanna Brockman and 23 more

Registry-linked trialOpen access · greenAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Nature, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05466097 (Development of Polygenic Risk Score to Predict the Efficacy of Weight Loss Intervention in Children and Adolescents With Obesity), which is not on this map. Cited by 268 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
268citing papers in PubMed, 7 pooled it
69.3field-weighted citation impact, top 1% of its field
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.

NCT05466097 unknown statusnot on this mapstarted 2022, after this paper: background citation

Development of Polygenic Risk Score to Predict the Efficacy of Weight Loss Intervention in Children and Adolescents With Obesity

Typeobservational_patient_registrySponsorFar Eastern Memorial HospitalRan2022 to 2025Enrolled300ConditionsObesity, Children
3 · Its place in the literature

Who cites it

268 citing papers in PubMed, 7 syntheses or guidelines pooled it, 476 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  7. Pooled it
  8. Primary care physician use of patient race and polygenic risk scores in medical decision-making.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
    Trial
  9. Age-Specific Associations of Polygenic Risk Scores With Advanced Fibrosis and Histological Activity in Biopsy-Proven MASLD.Liver international : official journal of the International Association for the Study of the Liver · 2026
    Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Review
  18. Review
  19. Review
  20. Polygenic Prediction of Nongoal Response to Statin Therapy.Circulation. Genomic and precision medicine · 2026
    Article

208 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

33 authors at 18 institutions in 4 countries.

Hannah Wand *Stanford University School of Medicine, Stanford, CA, USA.
Samuel A Lambert *Cambridge Baker Systems Genomic Initiative, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-8222-008X
Cecelia TamburroNational Human Genome Research Institute, Bethesda, MD, USA.
Michael A IacoccaStanford University School of Medicine, Stanford, CA, USA.
Jack W O'SullivanStanford University School of Medicine, Stanford, CA, USA.
Catherine SillariNational Human Genome Research Institute, Bethesda, MD, USA.
Iftikhar J KulloDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.ORCID http://orcid.org/0000-0002-6524-3471
Robb RowleyNational Human Genome Research Institute, Bethesda, MD, USA.
Jacqueline S DronCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3045-6530
Deanna BrockmanCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Eric VennerBaylor College of Medicine, Houston, TX, USA.
Mark I McCarthyDepartment of Human Genetics, Genentech, South San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-4393-0510
Antonis C AntoniouDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Douglas F EastonDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0003-2444-3247
Robert A HegeleWestern University, London, Ontario, Canada.
Amit V KheraCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-6535-5839
Nilanjan ChatterjeeDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Karen EdwardsDepartment of Epidemiology, University of California, Irvine, CA, USA.
Katherine VlessisDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Kim KinnearDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
John N DaneshBHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Helen ParkinsonHealth Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, UK.
Erin M RamosNational Human Genome Research Institute, Bethesda, MD, USA.
Megan C RobertsDivision of Pharmaceutical Outcomes and Policy, UNC Eshelman School of Pharmacy, Chapel Hill, NC, USA.
Kelly E OrmondDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-1033-0818
Muin J KhouryCenters for Disease Control and Prevention, Atlanta, GA, USA.
A Cecile J W JanssensDepartment of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, USA.
Katrina A B GoddardDepartment of Translational and Applied Genomics, Kaiser Permanente Northwest, Portland, OR, USA.
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0002-4472-8103
Jaqueline A L MacArthurEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.ORCID http://orcid.org/0000-0002-3550-9769
Michael InouyeCambridge Baker Systems Genomic Initiative, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-9413-6520
Genevieve L WojcikDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA. gwojcik1@jhu.edu.ORCID http://orcid.org/0000-0001-7206-8088
Stanford University · USNational Human Genome Research Institute · USEuropean Bioinformatics Institute · GBUniversity of Cambridge · GBJohns Hopkins University · USMassachusetts General Hospital · USWestern University · CABaker Heart and Diabetes Institute · AUBaylor College of Medicine · USCenters for Disease Control and Prevention · USCentre for Human Genetics · GBEmory University · USFred Hutch Cancer Center · USHarvard University · USKaiser Permanente · USMayo Clinic in Arizona · USUniversity of California, Irvine · USUniversity of North Carolina Health Care · US

Funding

The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI REHM, HEIDI L · 2013 to 2020
$26.9M
The Future of PharmGKB Funding Under NHGRIU41HG009649 · NHGRI · STANFORD UNIVERSITY · PI BUSTAMANTE, CARLOS DANIEL · 2017 to 2020
$13.4M
The Clinical Genome Resource - Expert Curation and EHR IntegrationU41HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, GODDARD, KATRINA A. · 2017 to 2020
$13.3M
GWAS CatalogU41HG007823 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI PARKINSON, HELEN ELIZABETH · 2014 to 2021
$6.7M
Primary Mitochondrial Disease Expert Curation PanelU24HD093483 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI FALK, MARNI J, GAI, XIAOWU · 2017 to 2023
$2.2M
Integrating genome-scale data to reveal causal mechanisms in type 2 diabetesU01DK105535 · NIDDK · UNIVERSITY OF OXFORD · PI GLOYN, ANNA LOUISE · 2015 to 2019
$1.7M
Polygenic prediction of common, complex diseasesK08HG010155 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI KHERA, AMIT VIKRAM · 2018 to 2021
$1.1M
Expert Panel: Genetics of Malformations of the Central Nervous SystemU24HD093487 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI PODURI, ANNAPURNA, YU, TIMOTHY WEI-WEN · 2017 to 2019
$988k
Genomic Clinical Variant Expert Curation Panel for Monogenic Diabetes: A Gateway to Precision Medicine in Diabetes MellitusU24HD093486 · NICHD · UNIVERSITY OF MARYLAND BALTIMORE · PI POLLIN, TONI I. · 2017 to 2019
$816k
British Heart Foundation RG/13/13/30194British Heart Foundation RG/18/13/33946Medical Research Council MR/L003120/1NHGRI NIH HHS K08 HG010155NHGRI NIH HHS U24 HG009650NHGRI NIH HHS U41 HG006834NHGRI NIH HHS U41 HG007823NHGRI NIH HHS U41 HG009649NHGRI NIH HHS U41 HG009650NICHD NIH HHS U24 HD093483NICHD NIH HHS U24 HD093486NICHD NIH HHS U24 HD093487NIDDK NIH HHS U01 DK105535Wellcome TrustWellcome Trust 090532Wellcome Trust 098381Wellcome Trust 106130Wellcome Trust 203141Wellcome Trust 212259
6 · The paper itself

Abstract

Polygenic risk scores (PRSs), which often aggregate results from genome-wide association studies, can bridge the gap between initial discovery efforts and clinical applications for the estimation of disease risk using genetics. However, there is notable heterogeneity in the application and reporting of these risk scores, which hinders the translation of PRSs into clinical care. Here, in a collaboration between the Clinical Genome Resource (ClinGen) Complex Disease Working Group and the Polygenic Score (PGS) Catalog, we present the Polygenic Risk Score Reporting Standards (PRS-RS), in which we update the Genetic Risk Prediction Studies (GRIPS) Statement to reflect the present state of the field. Drawing on the input of experts in epidemiology, statistics, disease-specific applications, implementation and policy, this comprehensive reporting framework defines the minimal information that is needed to interpret and evaluate PRSs, especially with respect to downstream clinical applications. Items span detailed descriptions of study populations, statistical methods for the development and validation of PRSs and considerations for the potential limitations of these scores. In addition, we emphasize the need for data availability and transparency, and we encourage researchers to deposit and share PRSs through the PGS Catalog to facilitate reproducibility and comparative benchmarking. By providing these criteria in a structured format that builds on existing standards and ontologies, the use of this framework in publishing PRSs will facilitate translation into clinical care and progress towards defining best practice.

Indexed as

Genetic Predisposition to DiseaseGenetics, MedicalHumansMultifactorial InheritanceReproducibility of ResultsRisk Assessment

Identifiers

PMID33692554
PMCPMC8609771
OpenAlexW3134721632

What OpenQuestion holds

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Registered trials

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.