Sizheng Steven ZhaoChuan HongTianrun CaiChang XuJie HuangJoerg ErmannNicola GoodsonDaniel H. SolomonTianxi CaiKatherine P. Liao
Abstract Objectives To develop classification algorithms that accurately identify axial SpA (axSpA) patients in electronic health records, and compare the performance of algorithms incorporating free-text data against approaches using only International Classification of Diseases (ICD) codes. Methods An enriched cohort of 7853 eligible patients was created from electronic health records of two large hospitals using automated searches (⩾1 ICD codes combined with simple text searches). Key disease concepts from free-text data were extracted using NLP and combined with ICD codes to develop algorithms. We created both supervised regression-based algorithms—on a training set of 127 axSpA cases and 423 non-cases—and unsupervised algorithms to identify patients with high probability of having axSpA from the enriched cohort. Their performance was compared against classifications using ICD codes only. Results NLP extracted four disease concepts of high predictive value: ankylosing spondylitis, sacroiliitis, HLA-B27 and spondylitis. The unsupervised algorithm, incorporating both the NLP concept and ICD code for AS, identified the greatest number of patients. By setting the probability threshold to attain 80% positive predictive value, it identified 1509 axSpA patients (mean age 53 years, 71% male). Sensitivity was 0.78, specificity 0.94 and area under the curve 0.93. The two supervised algorithms performed similarly but identified fewer patients. All three outperformed traditional approaches using ICD codes alone (area under the curve 0.80–0.87). Conclusion Algorithms incorporating free-text data can accurately identify axSpA patients in electronic health records. Large cohorts identified using these novel methods offer exciting opportunities for future clinical research.
Jeffrey M. AshburnerYuchiao ChangXin WangShaan KhurshidChristopher D. AndersonKumar DahalDana WeisenfeldTianrun CaiKatherine P. LiaoKavishwar B. WagholikarShawn N. MurphySteven J. AtlasSteven A. LubitzDaniel E. Singer
Tristram DacayanDaniel OjedaDaehan Kwak
Yuting GuoHaoming ShiWendy BookLindsey C. IveyFred H. RodriguezReza SameniCheryl Raskind‐HoodChad RobichauxKarrie F. DowningAbeed Sarker
Katherine P. LiaoTianrun CaiGuergana SavovaSue MurphyElizabeth W. KarlsonAshwin N. AnanthakrishnanVivian S. GainerStanley Y. ShawZongqi XiaPeter SzolovitsSusanne ChurchillIsaac S. Kohane
Duy Van LeJames MontgomeryKenneth C. KirkbyJoel Scanlan