Evidence map›Paper›PMID 36745605›Full record

ArticleDiabetes care2023

Polygenic Scores Help Reduce Racial Disparities in Predictive Accuracy of Automated Type 1 Diabetes Classification Algorithms.

Aaron J Deutsch, Lauren Stalbow, Timothy D Majarian, Josep M Mercader, Alisa K Manning, Jose C Florez, Ruth J F Loos, Miriam S Udler

Abstract read
In one paragraph

Article in Diabetes care, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Review
  5. Phenotypic and Genetic Diversity in Diabetes Across Populations.The Journal of clinical endocrinology and metabolism · 2025
    Review
  6. Article
  7. Article
  8. 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

8 authors.

Aaron J DeutschDiabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.
Lauren StalbowCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
Timothy D MajarianPrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Josep M MercaderDiabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.ORCID 0000-0001-8494-3660
Alisa K ManningPrograms in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Jose C FlorezDiabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.ORCID 0000-0002-1730-9325
Ruth J F LoosCharles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY.
Miriam S UdlerDiabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.ORCID 0000-0003-3824-9162

Funding

TRAINING PROGRAM IN ENDOCRINOLOGY AND DIABETEST32DK007028 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Karen K Miller · 1986 to 2026
$18.5M
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
Clinical Implications of Genetically Defined Diabetes Subtypes and Application to Electronic Health Medical Record SystemsK23DK114551 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI UDLER, MIRIAM SARGON · 2017 to 2021
$1000k
Mentoring Investigators on the Clinical Translation of Cardiometabolic Genetic DiscoveriesK24HL157960 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI FLOREZ, JOSE CARLOS · 2021 to 2025
$626k
Extension of Type 2 Diabetes Genetic Clustering to Populations of non-European AncestryR03DK131249 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI UDLER, MIRIAM SARGON · 2022 to 2023
$252k
A genotype first approach to studying diabetesF30DK130576 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI STALBOW, LAUREN · 2021 to 2024
$196k
NHGRI NIH HHS U01 HG011723NHLBI NIH HHS K24 HL157960NIDDK NIH HHS F30 DK130576NIDDK NIH HHS K23 DK114551NIDDK NIH HHS R03 DK131249NIDDK NIH HHS T32 DK007028NIDDK NIH HHS UM1 DK078616
6 · The paper itself

Abstract

objectiveAutomated algorithms to identify individuals with type 1 diabetes using electronic health records are increasingly used in biomedical research. It is not known whether the accuracy of these algorithms differs by self-reported race. We investigated whether polygenic scores improve identification of individuals with type 1 diabetes. RESEARCH DESIGN AND

methodsWe investigated two large hospital-based biobanks (Mass General Brigham [MGB] and BioMe) and identified individuals with type 1 diabetes using an established automated algorithm. We performed medical record reviews to validate the diagnosis of type 1 diabetes. We implemented two published polygenic scores for type 1 diabetes (developed in individuals of European or African ancestry). We assessed the classification algorithm before and after incorporating polygenic scores.

resultsThe automated algorithm was more likely to incorrectly assign a diagnosis of type 1 diabetes in self-reported non-White individuals than in self-reported White individuals (odds ratio 3.45; 95% CI 1.54-7.69; P = 0.0026). After incorporating polygenic scores into the MGB Biobank, the positive predictive value of the type 1 diabetes algorithm increased from 70 to 97% for self-reported White individuals (meaning that 97% of those predicted to have type 1 diabetes indeed had type 1 diabetes) and from 53 to 100% for self-reported non-White individuals. Similar results were found in BioMe.

conclusionsAutomated phenotyping algorithms may exacerbate health disparities because of an increased risk of misclassification of individuals from underrepresented populations. Polygenic scores may be used to improve the performance of phenotyping algorithms and potentially reduce this disparity.

Indexed as

AlgorithmsDiabetes Mellitus, Type 1Multifactorial InheritanceElectronic Health RecordsHumansPredictive Value of Tests

Identifiers

PMID36745605
PMCPMC10090893

What OpenQuestion 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 OpenQuestion graph.