Clinical study applying machine learning to detect a rare disease: results and lessons learned.
Machine learning has the potential to improve identification of patients for appropriate diagnostic testing and treatment, including those who have rare diseases for which effective treatments are available, such as acute hepatic porphyria (AHP). We trained a machine learning model on 205 571 complete electronic health records from a single medical center based on 30 known cases to identify 22 patients with classic symptoms of AHP that had neither been diagnosed [...]
Author(s): Hersh, William R, Cohen, Aaron M, Nguyen, Michelle M, Bensching, Katherine L, Deloughery, Thomas G
DOI: 10.1093/jamiaopen/ooac053