Evidence map›Paper›PMID 39454094›Full record

ReviewJournal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases2025

Genetic Risk Scores for the Clinical Rheumatologist.

Austin M Wheeler, Thomas R Riley, Tony R Merriman

Abstract readReview
In one paragraph

Review in Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Austin M WheelerFrom the University of Nebraska Medical Center and VA Nebraska-Western Iowa Health Care System, Omaha, NE.ORCID 0000-0002-8816-7782
Thomas R RileyUniversity of Pennsylvania and Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA.
Tony R MerrimanUniversity of Alabama at Birmingham, Birmingham, AL.

Funding

Clinical Pharmacoepidemiology Training ProgramT32GM075766 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Sean Hennessy, Charles Edward Leonard · 2006 to 2026
$8.4M
NIGMS NIH HHS T32 GM075766
6 · The paper itself

Abstract

background/historical perspectiveThe advent of genome-wide sequencing and large-scale genetic epidemiological studies has led to numerous opportunities for the application of genetics in clinical medicine. Leveraging this information toward the formation of clinically useful tools has been an ongoing research goal in this area. A genetic risk score (GRS) is a measure that attempts to estimate the cumulative contribution of established genetic risk factors toward an outcome of interest, taking into account the cumulative risk that each of these individual genetic risk factors conveys. The purpose of this perspective is to provide a systematic framework to evaluate a GRS for clinical application. SUMMARY OF CURRENT LITERATURE: Since the initial polygenic risk score methodology in 2007, there has been increasing GRS application across the medical literature. In rheumatology, this has included application to rheumatoid arthritis, gout, spondyloarthritis, lupus, and inflammatory arthritis. MAJOR

conclusionsGRSs are particularly relevant to rheumatology, where common diseases have many complex genetic factors contributing to risk. Despite this, there is no widely accepted method for the critical application of a GRS, which can be a particular challenge for the clinical rheumatologist seeking to clinically apply GRSs. This review provides a framework by which the clinician may systematically evaluate a GRS. FUTURE RESEARCH DIRECTIONS: As genotyping becomes more accessible and cost-effective, it will become increasingly important to recognize the clinical applicability of GRSs and identify those of the highest utility for patient care. This framework for the evaluation of a GRS will also help ensure reliability among GRS research in rheumatology, thereby helping to advance the field.

Indexed as

Genetic Predisposition to DiseaseGenetic Risk ScoreGenome-Wide Association StudyHumansRheumatic DiseasesRheumatologistsRheumatologyRisk AssessmentRisk Factors

Identifiers

PMID39454094
PMCPMC11888151

What Socratic holds

Textmetadata
LicenceTDM
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.