Evidence map›Paper›PMID 38671457›Full record

ArticleGenome medicine2024

Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study.

Ravi Mandla, Philip Schroeder, Bianca Porneala, Jose C Florez, James B Meigs, Josep M Mercader, Aaron Leong

Open access · goldAbstract read
In one paragraph

Article in Genome medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
6.1field-weighted citation impact, top 4% 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

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

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

7 authors at 2 institutions in 1 country.

Ravi MandlaPrograms in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Philip SchroederPrograms in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Bianca PornealaDivision of General Internal Medicine, Department of Medicine, Massachusetts General Hospital, 100 Cambridge St. Fl. 16, Boston, MA, 02114, USA.
Jose C FlorezPrograms in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
James B MeigsPrograms in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Josep M Mercader *Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Aaron Leong *Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. asleong@mgh.harvard.edu.ORCID 0000-0002-3248-9547
Broad Institute · USMassachusetts General Hospital · US

Funding

Development of Polygenic Risk Scores for Diabetes and Complications across the Life-Span in Populations of Multiple AncestriesU01HG011723 · NHGRI · BROAD INSTITUTE, INC. · PI Alisa Knodle Manning, Josep Maria Mercader · 2021 to 2026
$5.7M
TOPMed Omics of Type 2 Diabetes and Quantitative TraitsUM1DK078616 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MANNING, ALISA KNODLE · 2021 to 2025
$3.8M
Rare Sequence Variation and Diabetes Quantitative TraitsU01DK078616 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MEIGS, JAMES B · 2015 to 2019
$3.6M
TOPMed Omics of Cardiovascular Disease in DiabetesR01HL151855 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI MEIGS, JAMES B · 2020 to 2023
$3.3M
Mentoring Investigators on the Clinical Translation of Cardiometabolic Genetic DiscoveriesK24HL157960 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI FLOREZ, JOSE CARLOS · 2021 to 2025
$626k
Doris Duke Charitable Foundation 2020096NHGRI NIH HHS U01 HG011723NHGRI NIH HHS U01HG011723NHLBI NIH HHS K24 HL157960NHLBI NIH HHS R01 HL151855NIDDK NIH HHS R01 HL151855NIDDK NIH HHS U01 DK078616NIDDK NIH HHS UM1 DK078616
6 · The paper itself

Abstract

backgroundThe clinical utility of genetic information for type 2 diabetes (T2D) prediction with polygenic scores (PGS) in ancestrally diverse, real-world US healthcare systems is unclear, especially for those at low clinical phenotypic risk for T2D.

methodsWe tested the association of PGS with T2D incidence in patients followed within a primary care practice network over 16 years in four hypothetical scenarios that varied by clinical data availability (N = 14,712): (1) age and sex; (2) age, sex, body mass index (BMI), systolic blood pressure, and family history of T2D; (3) all variables in (2) and random glucose; and (4) all variables in (3), HDL, total cholesterol, and triglycerides, combined in a clinical risk score (CRS). To determine whether genetic effects differed by baseline clinical risk, we tested for interaction with the CRS.

resultsPGS was associated with incident T2D in all models. Adjusting for age and sex only, the Hazard Ratio (HR) per PGS standard deviation (SD) was 1.76 (95% CI 1.68, 1.84) and the HR of top 5% of PGS vs interquartile range (IQR) was 2.80 (2.39, 3.28). Adjusting for the CRS, the HR per SD was 1.48 (1.40, 1.57) and HR of the top 5% of PGS vs IQR was 2.09 (1.72, 2.55). Genetic effects differed by baseline clinical risk ((PGS-CRS interaction p = 0.05; CRS below the median: HR 1.60 (1.43, 1.79); CRS above the median: HR 1.45 (1.35, 1.55)).

conclusionsGenetic information can help identify high-risk patients even among those perceived to be low risk in a clinical evaluation.

Indexed as

Diabetes Mellitus, Type 2Multifactorial InheritanceAdultAgedCohort StudiesFemaleGenetic Predisposition to DiseaseHumansIncidenceLongitudinal StudiesMaleMiddle AgedPhysicians, Primary CarePrimary Health CareRisk FactorsElectronic health recordsPolygenic scoresPrimary careType 2 diabetes

Identifiers

PMID38671457
PMCPMC11046943
OpenAlexW4395672838

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.