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Development and evaluation of a computable phenotype to identify pediatric patients with leukemia and lymphoma
Charles A Phillips1, Hanieh Razzaghi1, Taylor Aglio2
1Division of Oncology and Center for Childhood Cancer Research, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Insights
This study developed an accurate electronic health record (EHR) computable phenotype to identify pediatric leukemia and lymphoma patients receiving chemotherapy. This tool is ready for use in clinical research, improving cohort identification for pediatric hematologic malignancies.
Area of Science:
- Biomedical Informatics
- Pediatric Oncology
- Health Data Science
Background:
- Electronic health records (EHR) offer new avenues for pediatric oncology research.
- Identifying pediatric hematologic malignancies using EHR data has been underexplored.
Purpose of the Study:
- To develop and validate a computable phenotype algorithm using EHR data to identify pediatric patients with leukemia and lymphoma who received chemotherapy.
- To assess the accuracy of this algorithm within a pediatric clinical data research network.
Main Methods:
- A computable phenotype was developed using EHR data from the PEDSnet network.
- The algorithm required specific diagnosis codes, chemotherapy exposures, and provider encounters.
- Performance was evaluated against institutional tumor registries and through masked medical record review at three institutions.
Main Results:
- The computable phenotype demonstrated high accuracy, with sensitivity and positive predictive value of 100% at the development institution.
- Performance remained strong at test institutions, showing 100% sensitivity and 96-100% positive predictive value.
- Specificity was consistently high (99%) across all institutions.
Conclusions:
- An EHR-based computable phenotype accurately identifies pediatric patients with leukemia and lymphoma undergoing chemotherapy.
- This validated tool is ready for implementation in pediatric clinical studies.
- Enhances cohort identification for pediatric hematologic malignancies research.
Background:
Widespread implementation of electronic health records (EHR) has created new opportunities for pediatric oncology observational research. Little attention has been given to using EHR data to identify patients with pediatric hematologic malignancies.
Methods:
This study used EHR-derived data in a pediatric clinical data research network, PEDSnet, to develop and evaluate a computable phenotype algorithm to identify pediatric patients with leukemia and lymphoma who received treatment with chemotherapy. To guide early development, multiple computable phenotype-defined cohorts were compared to one institution's tumor registry. The most promising algorithm was chosen for formal evaluation and consisted of at least two leukemia/lymphoma diagnoses (Systematized Nomenclature of Medicine codes) within a 90-day period, two chemotherapy exposures, and three hematology-oncology provider encounters. During evaluation, the computable phenotype was executed against EHR data from 2011 to 2016 at three large institutions. Classification accuracy was assessed by masked medical record review with phenotype-identified patients compared to a control group with at least three hematology-oncology encounters.
Results:
The computable phenotype had sensitivity of 100% (confidence interval [CI] 99%, 100%), specificity of 99% (CI 99%, 100%), positive predictive value (PPV) and negative predictive value (NPV) of 100%, and C-statistic of 1 at the development institution. The computable phenotype performance was similar at the two test institutions with sensitivity of 100% (CI 99%, 100%), specificity of 99% (CI 99%, 100%), PPV of 96%, NPV of 100%, and C-statistic of 0.99.
Conclusion:
The EHR-based computable phenotype is an accurate cohort identification tool for pediatric patients with leukemia and lymphoma who have been treated with chemotherapy and is ready for use in clinical studies.
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