Title
CUSTOM-SEQ: a prototype for oncology rapid learning in a comprehensive EHR environment.
Abstract
Background: As targeted cancer therapies and molecular profiling become widespread, the era of "precision oncology" is at hand. However, cancer genomes are complex, making mutation-specific outcomes difficult to track. We created a proof-of-principle, CUSTOM-SEQ: Continuously Updating System for Tracking Outcome by Mutation, to Support Evidence-based Querying, to automatically calculate and display mutation-specific survival statistics from electronic health record data. Methods: Patients with cancer genotyping were included, and clinical data was extracted through a variety of algorithms. Results were refreshed regularly and injected into a standard reporting platform. Significant results were highlighted for visual cueing. A subset was additionally stratified by stage, smoking status, and treatment exposure. Results: By August 2015, 4310 patients with a median follow-up of 17 months had sufficient data for survival calculation. As expected, epidermal growth factor receptor (EGFR) mutations in lung cancer were associated with superior overall survival, hazard ratio (HR) = 0.53 (P < .001), validating the approach. Guanine nucleotide binding protein (G protein), q polypeptide (GNAQ) mutations in melanoma were associated with inferior overall survival, a novel finding (HR = 3.42, P < .001). Smoking status was not prognostic for epidermal growth factor receptor-mutated lung cancer patients, who also lived significantly longer than their counterparts, even with advanced disease (HR = 0.54, P = .001). Interpretation: CUSTOM-SEQ represents a novel rapid learning system for a precision oncology environment. Retrospective studies are often limited by study of specific time periods and can lead to incomplete conclusions. Because data is continuously updated in CUSTOM-SEQ, the evidence base is constantly growing. Future work will allow users to interactively explore populations by demographics and treatment exposure, in order to further investigate significant mutation-specific signals.
Year
DOI
Venue
2016
10.1093/jamia/ocw008
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
Keywords
Field
DocType
health information management,electronic health records,genomics,information science,precision medicine,neoplasms
Lung cancer,Data mining,Precision medicine,GNAQ,Medicine,Hazard ratio,Oncology,Disease,Proportional hazards model,Internal medicine,Bioinformatics,Retrospective cohort study,Cancer
Journal
Volume
Issue
ISSN
23
4
1067-5027
Citations 
PageRank 
References 
1
0.63
1
Authors
7
Name
Order
Citations
PageRank
Jeremy Warner1518.71
Lucy Wang210.63
William Pao371.16
Jeffrey A Sosman410.63
Ravi V Atreya510.63
Pam Carney610.63
Mia A. Levy7195.15