Evidence map›Paper›PMID 40916912›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2025

Polygenic risk scores in the clinic: Health-system leaders and primary care providers weigh in.

Susan Brown Trinidad, Stephanie M Fullerton, Betty Cohn, David R Crosslin, Gail P Jarvik

Abstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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

2 citing papers in PubMed.

  1. Article
  2. 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

5 authors.

Susan Brown TrinidadDepartment of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA. Electronic address: sbtrini@uw.edu.
Stephanie M FullertonDepartment of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA.
Betty CohnInstitute for Public Health Genetics, University of Washington School of Public Health, Seattle, WA.
David R CrosslinDivision of Biomedical Informatics and Genomics, Tulane School of Medicine, New Orleans, LA.
Gail P JarvikDivision of Medical Genetics, University of Washington School of Medicine, Seattle, WA.

Funding

Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
NHGRI NIH HHS U01 HG008657
6 · The paper itself

Abstract

purposeThe fourth phase of the Electronic Medical Records and Genome Network is testing the return of 10 polygenic risk scores (PRS) across multiple clinics. Understanding the perspectives of health-system leaders and frontline clinicians can inform plans for implementation of PRS.

methodsA total of 15 health-system leaders and 20 primary care providers took part in semistructured interviews. A descriptive thematic analysis was performed.

resultsInterviewees generally perceived PRS to have limited clinical utility, although they saw value in the potential to identify and act upon risks that are not otherwise detectable. Perceived potential drawbacks included negative psycho-emotional effects on patients, unnecessary follow-up, distracting from population health priorities, opportunity costs, and medicolegal liability. Implementation considerations included increased encounter time and the need for clinical practice guidelines, provider training, care coordination, and point-of-care resources.

conclusionParticipants generally expressed favorable views of precision medicine and also identified potential challenges to introducing PRS in clinical care. Implementation will require careful assessment of clinical utility vs usual care; ensuring that the benefit to be realized merits the time and resources required to interpret, return, and act on results and developing guidelines and other decision-making supports for providers and patients.

Indexed as

Multifactorial InheritanceElectronic Health RecordsFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreGenetic TestingHealth PersonnelHumansLeadershipMalePrecision MedicinePrimary Health CareRisk AssessmentClinician perspectivesELSIImplementationPolygenic risk scoresQualitative

Identifiers

PMID40916912
PMCPMC12457071

What Socratic holds

Textmetadata
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 Socratic graph.