| Title: | Use of Diagnostic Codes for Primary Open-Angle Glaucoma Polygenic Risk Score Construction in Electronic Health Record-Linked Biobanks |
| Journal: | American Journal of Ophthalmology |
| Published: | 19 Jun 2024 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/38906208/ |
| DOI: | https://doi.org/10.1016/j.ajo.2024.06.007 |
Publication 11826
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Abstract
PURPOSE: Polygenic 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 versus manual medical record review.</p>
DESIGN: Retrospective cohort study METHODS: We identified POAG cases in Mount Sinai BioMe and Mass General Brigham (MGB) biobank 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 versus medical records.</p>
RESULTS: We reviewed 804 of 996 BioMe and 367 of 1,006 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≥0.21) 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≥0.18): 0.72 vs. 0.80 for African, 0.83 vs. 0.86 for Hispanic, and 0.74 vs. 0.73 for European.</p>
CONCLUSIONS: A POAG PRS performed similarly using either manual review or ICD codes in two EHR-linked biobanks; manual assessment of glaucoma status might be unnecessary for some PRS studies. However, caution should be exercised with using ICD codes for glaucoma diagnosis given their low specificity (44-53%) for manually confirmed cases of glaucoma.</p>
17 Authors
- Jessica H Tran
- Joyce Kang
- Elaine Han
- Urvi Gupta
- Kasem Seresirikachorn
- Ha My T Vy
- Yan Zhao
- Ghislain Rocheleau
- Yuyang Luo
- Rachel Lee
- Ron Do
- David S Friedman
- Jae H Kang
- Janey L Wiggs
- Louis R Pasquale
- Ayellet V Segrè
- Nazlee Zebardast
1 Application
| Application ID | Title |
|---|---|
| 50211 | Uncovering genetic and biological causes of ocular diseases and traits through integrative analysis of genetic, functional genomic, clinical, and ocular imaging data |
Enabling scientific discoveries that improve human health