ArticleAmerican journal of ophthalmology2024
Use of Diagnostic Codes for Primary Open-Angle Glaucoma Polygenic Risk Score Construction in Electronic Health Record-Linked Biobanks.
Article in American journal of ophthalmology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- ChatGPT-Assisted Glaucoma Diagnosis: A Health-Equitable Multi-Ancestry Analysis Using Visual Field and Optical Coherence Tomography Data.American journal of ophthalmology · 2026Article
- Clinically informed semi-supervised learning improves disease annotation and equity from electronic health records: a glaucoma case study.NPJ digital medicine · 2025Article
- Clinically Informed Semi-Supervised Learning Improves Disease Annotation and Equity from Electronic Health Records: A Glaucoma Case Study.Research square · 2025Article
- Clinically Informed Semi-Supervised Learning Improves Disease Annotation and Equity from Electronic Health Records: A Glaucoma Case Study.medRxiv : the preprint server for health sciences · 2025Article
- Primary open-angle glaucoma: a perspective from plasma metabolomics.Expert review of molecular diagnostics · 2025Review
- Polygenic Risk Prediction for Normal-Tension Glaucoma.Investigative ophthalmology & visual science · 2025Article
- Multi-trait Polygenic Probability Risk Score Enhances Glaucoma Prediction Across Ancestries.medRxiv : the preprint server for health sciences · 2025Article
- The Clinical Usefulness of a Glaucoma Polygenic Risk Score in 4 Population-Based European Ancestry Cohorts.Ophthalmology · 2025Article
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Authors and funding
17 authors.
Funding
Abstract
purposePolygenic risk scores (PRSs) likely predict risk and prognosis of glaucoma. We compared the PRS performance for primary open-angle glaucoma (POAG), defined using International Classification of Diseases (ICD) codes vs manual medical record review.
designRetrospective cohort study.
methodsWe identified POAG cases in the Mount Sinai BioMe and Mass General Brigham (MGB) biobanks using ICD codes. We confirmed POAG based on optical coherence tomograms and visual fields. In a separate 5% sample, the absence of POAG was confirmed with intraocular pressure and cup-disc ratio criteria. We used genotype data and either self-reported glaucoma diagnoses or ICD-10 codes for glaucoma diagnoses from the UK Biobank and the lassosum method to compute a genome-wide POAG PRS. We compared the area under the curve (AUC) for POAG prediction based on ICD codes vs medical records.
resultsWe reviewed 804 of 996 BioMe and 367 of 1006 MGB ICD-identified cases. In BioMe and MGB, respectively, positive predictive value was 53% and 55%; negative predictive value was 96% and 97%; sensitivity was 97% and 97%; and specificity was 44% and 53%. Adjusted PRS AUCs for POAG using ICD codes vs manual record review in BioMe were not statistically different (P ≥.21) by ancestry: 0.77 vs 0.75 for African, 0.80 vs 0.80 for Hispanic, and 0.81 vs 0.81 for European. Results were similar in MGB (P ≥.18): 0.72 vs 0.80 for African, 0.83 vs 0.86 for Hispanic, and 0.74 vs 0.73 for European.
conclusionsA POAG PRS performed similarly using either manual review or ICD codes in 2 electronic health record-linked biobanks; manual assessment of glaucoma status might not be necessary for some PRS studies. However, caution should be exercised when using ICD codes for glaucoma diagnosis given their low specificity (44%-53%) for manually confirmed cases of glaucoma.
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