Use of Diagnostic Codes for Primary Open-Angle Glaucoma Polygenic Risk Score Construction in Electronic Health Record-Linked Biobanks.
Jessica H TranJoyce KangElaine HanUrvi GuptaKasem SeresirikachornHa My T VyYan ZhaoGhislain RocheleauYuyang LuoRachel LeeRon DoDavid S FriedmanJae H KangJaney L WiggsLouis R PasqualeAyellet V SegrèNazlee ZebardastPublished in: American journal of ophthalmology (2024)
A 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.