TY - JOUR
T1 - Tracing diagnosis trajectories over millions of patients reveal an unexpected risk in schizophrenia
AU - Paik, Hyojung
AU - Kan, Matthew J.
AU - Rappoport, Nadav
AU - Hadley, Dexter
AU - Sirota, Marina
AU - Chen, Bin
AU - Manber, Udi
AU - Cho, Seong Beom
AU - Butte, Atul J.
N1 - Funding Information:
The research reported here was supported by the National Institute of General Medical Sciences of the National Institutes of Health under award number R01 GM079719. This work was also supported by the Post Genome Multi-Ministerial Genome Project (3000-3031-405:2019-NI-093-00) of South Korea. H.P. was also supported by the Korea Institute of Science and Technology Information (KISTI, K-17-L03-C02-S02, K-18-L12-C08-S01). Use of UCSF de-identified data was made possible by Dana Ludwig and the UCSF Information Technology Services Academic Research Systems team and the Clinical Data Research Consultations service. Research reported in this publication was also supported by funding from the UCSF Bakar Computational Health Sciences Institute and the National Center for Advancing Translational Sciences of the National Institutes of Health under award number UL1 TR001872. The contents are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. We thank Jae Hyun Yoo for his work in developing the interactive data visualization of the trajectories and the showcase video. We thank Christina Mangurian who assisted case reviews of schizophrenia patients. We also appreciate Keiichi Kodama for the overall review of diagnosis trajectories, as a MD/PhD researcher. We thank Dvir Aran, Kelly Zalocusky, and Seok Jong Yu for useful discussions.
Publisher Copyright:
© 2019, The Author(s).
PY - 2019/12/1
Y1 - 2019/12/1
N2 - The identification of novel disease associations using big-data for patient care has had limited success. In this study, we created a longitudinal disease network of traced readmissions (disease trajectories), merging data from over 10.4 million inpatients through the Healthcare Cost and Utilization Project, which allowed the representation of disease progression mapping over 300 diseases. From these disease trajectories, we discovered an interesting association between schizophrenia and rhabdomyolysis, a rare muscle disease (incidence < 1E-04) (relative risk, 2.21 [1.80–2.71, confidence interval = 0.95], P-value 9.54E-15). We validated this association by using independent electronic medical records from over 830,000 patients at the University of California, San Francisco (UCSF) medical center. A case review of 29 rhabdomyolysis incidents in schizophrenia patients at UCSF demonstrated that 62% are idiopathic, without the use of any drug known to lead to this adverse event, suggesting a warning to physicians to watch for this unexpected risk of schizophrenia. Large-scale analysis of disease trajectories can help physicians understand potential sequential events in their patients.
AB - The identification of novel disease associations using big-data for patient care has had limited success. In this study, we created a longitudinal disease network of traced readmissions (disease trajectories), merging data from over 10.4 million inpatients through the Healthcare Cost and Utilization Project, which allowed the representation of disease progression mapping over 300 diseases. From these disease trajectories, we discovered an interesting association between schizophrenia and rhabdomyolysis, a rare muscle disease (incidence < 1E-04) (relative risk, 2.21 [1.80–2.71, confidence interval = 0.95], P-value 9.54E-15). We validated this association by using independent electronic medical records from over 830,000 patients at the University of California, San Francisco (UCSF) medical center. A case review of 29 rhabdomyolysis incidents in schizophrenia patients at UCSF demonstrated that 62% are idiopathic, without the use of any drug known to lead to this adverse event, suggesting a warning to physicians to watch for this unexpected risk of schizophrenia. Large-scale analysis of disease trajectories can help physicians understand potential sequential events in their patients.
UR - http://www.scopus.com/inward/record.url?scp=85073423025&partnerID=8YFLogxK
U2 - 10.1038/s41597-019-0220-5
DO - 10.1038/s41597-019-0220-5
M3 - Article
AN - SCOPUS:85073423025
VL - 6
JO - Scientific data
JF - Scientific data
SN - 2052-4463
IS - 1
M1 - 201
ER -