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Published on: December 10, 2013
Computable Phenotypes for Respiratory Viral Infections in the All of Us Research Program
Bennett J Waxse1,2, Fausto Andres Bustos Carrillo1, Tam C Tran1,2,3,4
1National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Developing computable phenotypes from electronic health records (EHRs) effectively identifies respiratory virus infections. This integrated approach enhances disease surveillance and research into host genetics and health disparities.
Area of Science:
- Epidemiology
- Biostatistics
- Computational Biology
Background:
- Electronic health records (EHRs) offer valuable temporal data for infectious disease research.
- Optimal methods for identifying infections within EHRs are still under development.
- Respiratory viruses pose a significant public health challenge, necessitating robust identification strategies.
Purpose of the Study:
- To develop and validate computable phenotypes for identifying respiratory virus infections using EHR data.
- To assess the effectiveness of integrating billing codes, prescriptions, and laboratory results for disease phenotyping.
- To enable large-scale studies on host genetics, health disparities, and clinical outcomes related to episodic infectious diseases.
Main Methods:
- Utilized the 'All of Us' Research Program dataset comprising 265,222 participants.
- Developed computable phenotypes by integrating billing codes, prescriptions, and laboratory results within 90-day episodes.
- Analyzed cohort sizes for various respiratory viruses, including adenovirus and SARS-CoV-2.
Main Results:
- Phenotypes successfully generated cohorts for multiple viruses, ranging from 238 (adenovirus) to 28,729 (SARS-CoV-2) cases.
- Virus-specific billing codes demonstrated variable sensitivity (8-67%) but high positive predictive value (90-97%).
- Identified infections aligned with expected seasonal patterns and proportions compared to CDC data, indicating method validity.
Conclusions:
- An integrated EHR data approach is superior to individual components for identifying episodic infectious diseases.
- The developed method effectively identifies severe infections and supports large-scale epidemiological research.
- This phenotyping strategy facilitates studies on host genetics, health disparities, and clinical outcomes across various episodic diseases.
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