Evidence map›Paper›PMID 35047839›Full record

ReviewHGG advances2021

Polygenic risk scores in the clinic: Translating risk into action.

Anna C F Lewis, Robert C Green, Jason L Vassy

Abstract readReview
In one paragraph

Review in HGG advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed, 2 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

47 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Pooled it
  3. Educational considerations based on medical student use of polygenic risk information and apparent race in a simulated consultation.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Trial
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  12. Review
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  15. Article
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  18. Integrating Polygenic Risk Scores (PRS) for Personalized Diabetes Care: Advancing Clinical Practice with Tailored Pharmacological Approaches.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2025
    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

3 authors.

Anna C F LewisE.J. Safra Center for Ethics, Harvard University and Center for Bioethics, Harvard Medical School, Boston, MA, USA.
Robert C GreenMass General Brigham, Broad Institute, Ariadne Labs, Harvard Medical School, Boston, MA, USA.
Jason L VassyVA Boston Healthcare System and Department of Medicine, Harvard Medical School, Boston, MA, USA.

Funding

Pragmatic randomized trial of polygenic risk scoring for common diseases in primary careR35HG010706 · NHGRI · HARVARD MEDICAL SCHOOL · PI VASSY, JASON L · 2019 to 2024
$2.6M
NHGRI NIH HHS R35 HG010706
6 · The paper itself

Abstract

Polygenic risk scores (PRSs) are heralded as useful tools for risk stratification and personalized preventive care, but they are clinically useful only if they can be translated into action. The risk information conveyed by a PRS must be contextualized to enable this. Best practices are evolving but are likely to involve integrating a PRS into an absolute risk model and using guideline-driven care linked to a specific threshold of risk. Because this approach is not currently available for most diseases, it may be necessary to use different methods of presenting risk and linking it to appropriate clinical action. We discuss the trade-offs of each strategy and argue for transparent communication to providers and patients of the imprecision in both risk estimates and action thresholds for PRSs.

Identifiers

PMID35047839
PMCPMC8756548

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.