Evidence map›Paper›PMID 36437929›Full record

ReviewFrontiers in genetics2022

Polygenic risk scores: An overview from bench to bedside for personalised medicine.

Benjamin Cross, Richard Turner, Munir Pirmohamed

Open access · goldAbstract readReview
In one paragraph

Review in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 3 pooled it
11.8field-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.

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

48 citing papers in PubMed, 3 syntheses or guidelines pooled it, 68 citations in OpenAlex.

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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 at 1 institution in 1 country.

Benjamin CrossThe Wolfson Centre for Personalised Medicine, Institute of Systems, Molecular and Integrative Biology, Faculty of Health & Life Sciences, University of Liverpool, Liverpool, United Kingdom.
Richard TurnerThe Wolfson Centre for Personalised Medicine, Institute of Systems, Molecular and Integrative Biology, Faculty of Health & Life Sciences, University of Liverpool, Liverpool, United Kingdom.
Munir PirmohamedThe Wolfson Centre for Personalised Medicine, Institute of Systems, Molecular and Integrative Biology, Faculty of Health & Life Sciences, University of Liverpool, Liverpool, United Kingdom.
University of Liverpool · GB

Funding

Medical Research Council MR/L006758/1
6 · The paper itself

Abstract

Since the first polygenic risk score (PRS) in 2007, research in this area has progressed significantly. The increasing number of SNPs that have been identified by large scale GWAS analyses has fuelled the development of a myriad of PRSs for a wide variety of diseases and, more recently, to PRSs that potentially identify differential response to specific drugs. PRSs constitute a composite genomic biomarker and potential applications for PRSs in clinical practice encompass risk prediction and disease screening, early diagnosis, prognostication, and drug stratification to improve efficacy or reduce adverse drug reactions. Nevertheless, to our knowledge, no PRSs have yet been adopted into routine clinical practice. Beyond the technical considerations of PRS development, the major challenges that face PRSs include demonstrating clinical utility and circumnavigating the implementation of novel genomic technologies at scale into stretched healthcare systems. In this review, we discuss progress in developing disease susceptibility PRSs across multiple medical specialties, development of pharmacogenomic PRSs, and future directions for the field.

Indexed as

cancercardiovascule diseasegenetic risk scoremetabolic diseaseneuropsychiatric disorderspersonalised medicinepharmacogenomicspolygenic risk score

Identifiers

PMID36437929
PMCPMC9692112
OpenAlexW4308936502

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.