Leveraging Open Electronic Health Record Data and Environmental Exposures Data to Derive Insights Into Rare Pulmonary Disease

Abstract

Research on rare diseases has received increasing attention, in part due to the realized profitability of orphan drugs. Biomedical informatics holds promise in accelerating translational research on rare disease, yet challenges remain, including the lack of diagnostic codes for rare diseases and privacy concerns that prevent research access to electronic health records when few patients exist. The Integrated Clinical and Environmental Exposures Service (ICEES) provides regulatory-compliant open access to electronic health record data that have been integrated with environmental exposures data, as well as analytic tools to explore the integrated data. We describe a proof-of-concept application of ICEES to examine demographics, clinical characteristics, environmental exposures, and health outcomes among a cohort of patients enriched for phenotypes associated with cystic fibrosis (CF), idiopathic bronchiectasis (IB), and primary ciliary dyskinesia (PCD). We then focus on a subset of patients with CF, leveraging the availability of a diagnostic code for CF and serving as a benchmark for our development work. We use ICEES to examine select demographics, co-diagnoses, and environmental exposures that may contribute to poor health outcomes among patients with CF, defined as emergency department or inpatient visits for respiratory issues. We replicate current understanding of the pathogenesis and clinical manifestations of CF by identifying co-diagnoses of asthma, chronic nasal congestion, cough, middle ear disease, and pneumonia as factors that differentiate patients with poor health outcomes from those with better health outcomes. We conclude by discussing our preliminary findings in relation to other published work, the strengths and limitations of our approach, and our future directions.

Immune-mediated disease caused by climate change-associated environmental hazards: mitigation and adaptation

“…The Integrated Clinical and Environmental Exposures Service (ICEES) provides regulationcompliant open access to electronic health record data that have been integrated with environmental exposure data, as well as analytic tools to explore the integrated data. Results suggest that the open-source ICEES can be used to replicate and extend published findings on factors that influence asthma exacerbations (198)(199)(200) (203)(204)(205). Big datasets and analytics that integrate statistics, computer science, biomedicine, and public health are being developed that can assist with understanding the complex dynamics between the environment and health.…”

Enriching Real-world Data with Social Determinants of Health for Health Outcomes and Health Equity: Successes, Challenges, and Opportunities

“…We invited leading experts who have published extensively in these areas [16][17][18][19][20][21][22][23][24][25][26][27][28][29] to conceptualize this review article and co-author sections corresponding to their expertise. Figure 1 shows our conceptual framework, adopting the social-ecological model [30] and the National Institute on Minority Health and Health Disparities (NIMHD) Research Framework [31], for integrating SDoH data with EHR data to support various health applications at the individual, family, community, and societal levels.…”