Validating inborn error of immunity prevalence and risk with nationally representative electronic health record data.

Background: The 10 Warning Signs of Primary Immunodeficiency were created 30 years ago to advance recognition of inborn errors of immunity (IEI). However, no population-level assessment of their utility applied to electronic health record (EHR) data has been conducted.

Objective: We sought to quantify the value of having ≥2 warning signs (WS) toward diagnosing IEI using a highly representative real-world US cohort.

Using passive extraction of real-world data from eConsent, electronic patient reported outcomes (ePRO) and electronic health record (EHR) data loaded to an electronic data capture (EDC) system for a multi-center, prospective, observational study in diabetic patients.

As clinical trial complexity has increased over the past decade, using electronic methods to simplify recruitment and data management have been investigated. In this study, the Optum Digital Research Network (DRN) has demonstrated the use of electronic source (eSource) data to ease subject identification, recruitment burden, and used data extracted from electronic health records (EHR) to load to an electronic data capture (EDC) system. This study utilized electronic Informed Consent, electronic patient reported outcomes (SF-12) and included three sites using 3 different EHR systems.