Evidence map›Paper›PMID 37859783›Full record

ArticleBMJ medicine2023

Performance of polygenic risk scores in screening, prediction, and risk stratification: secondary analysis of data in the Polygenic Score Catalog.

Aroon D Hingorani, Jasmine Gratton, Chris Finan, A Floriaan Schmidt, Riyaz Patel, Reecha Sofat, Valerie Kuan, Claudia Langenberg, Harry Hemingway, Joan K Morris and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed, 1 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

57 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Review
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. The principles of systems biology.Experimental physiology · 2026
    Review
  15. Review
  16. Article
  17. Observational
  18. Review
  19. Article
  20. Article
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

11 authors.

Aroon D HingoraniInstitute of Cardiovascular Science, University College London, London, UK.
Jasmine GrattonInstitute of Cardiovascular Science, University College London, London, UK.ORCID 0000-0002-9781-9762
Chris FinanInstitute of Cardiovascular Science, University College London, London, UK.
A Floriaan SchmidtInstitute of Cardiovascular Science, University College London, London, UK.
Riyaz PatelInstitute of Cardiovascular Science, University College London, London, UK.
Reecha SofatHealth Data Research UK, London, UK.
Valerie KuanInstitute of Cardiovascular Science, University College London, London, UK.
Claudia LangenbergPrecision Healthcare University Research Institute, Queen Mary University of London, London, UK.
Harry HemingwayBritish Heart Foundation Research Accelerator, University College London, London, UK.
Joan K MorrisPopulation Health Research Institute, St George's University of London, London, UK.
Nicholas J WaldInstitute of Health Informatics, University College London, London, UK.

Funding

British Heart Foundation PG/22/10989Medical Research Council MC_UU_00006/1
6 · The paper itself

Abstract

Objective: To clarify the performance of polygenic risk scores in population screening, individual risk prediction, and population risk stratification. Design: Secondary analysis of data in the Polygenic Score Catalog. Setting: Polygenic Score Catalog, April 2022. Secondary analysis of 3915 performance metric estimates for 926 polygenic risk scores for 310 diseases to generate estimates of performance in population screening, individual risk, and population risk stratification. Participants: Individuals contributing to the published studies in the Polygenic Score Catalog. Main outcome measures: Detection rate for a 5% false positive rate (DR Results: For performance in population screening, median DR Conclusion: Polygenic risk scores performed poorly in population screening, individual risk prediction, and population risk stratification. Strong claims about the effect of polygenic risk scores on healthcare seem to be disproportionate to their performance.

Indexed as

preventive medicinepublic health

Identifiers

PMID37859783
PMCPMC10582890

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.