Evidence map›Paper›PMID 39103647›Full record

ReviewNature genetics2024

Promoting equity in polygenic risk assessment through global collaboration.

Iftikhar J Kullo

Registry-linked trialAbstract readReview
PubMed Publisher
In one paragraph

Review in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07260552 (Rapid Engagement for Solutions to Population and Outcomes Through Networked Dialogue), which is not on this map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing 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.

NCT07260552 not yet recruitingnot on this mapstarted 2027, after this paper: background citation

Rapid Engagement for Solutions to Population and Outcomes Through Networked Dialogue (RESPOND) to Coronary Heart Disease

TypeobservationalSponsorMedical College of WisconsinRan2027 to 2031Enrolled200ConditionsCoronary Heart DiseaseArmsPolygenic risk score
3 · Its place in the literature

Who cites it

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

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Review
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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

1 author.

Iftikhar J KulloDepartment of Cardiovascular Medicine and the Gonda Vascular Center, Mayo Clinic, Rochester, MN, USA. kullo.iftikhar@mayo.edu.ORCID http://orcid.org/0000-0002-6524-3471

Funding

The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
Polygenic Risk of Disease in Populations of Diverse AncestryU01HG011710 · NHGRI · MAYO CLINIC ROCHESTER · PI SCHAID, DANIEL J. · 2021 to 2025
$3.2M
U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01 HG06379U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01 HG11710U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U24 HG09650
6 · The paper itself

Abstract

The long delay before genomic technologies become available in low- and middle-income countries is a concern from both scientific and ethical standpoints. Polygenic risk scores (PRSs), a relatively recent advance in genomics, could have a substantial impact on promoting health by improving disease risk prediction and guiding preventive strategies. However, clinical use of PRSs in their current forms might widen global health disparities, as their portability to diverse groups is limited. This Perspective highlights the need for global collaboration to develop and implement PRSs that perform equitably across the world. Such collaboration requires capacity building and the generation of new data in low-resource settings, the sharing of harmonized genotype and phenotype data securely across borders, novel population genetics and statistical methods to improve PRS performance, and thoughtful clinical implementation in diverse settings. All this needs to occur while considering the ethical, legal and social implications, with support from regulatory and funding agencies and policymakers.

Indexed as

Multifactorial InheritanceGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsGlobal HealthHumansInternational CooperationRisk Assessment

Identifiers

What OpenQuestion holds

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Registered trials

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.