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

Public Deposited

Downloadable Content

Download PDF
Request Version for Screen Reader
Creator
  • Fecho, Karamarie
    • Affiliation: Renaissance Computing Institute
  • Ahalt, Stanley C.
    • Affiliation: Renaissance Computing Institute
  • Knowles, Michael
    • Affiliation: School of Medicine
  • Krishnamurthy, Ashok
    • Affiliation: Renaissance Computing Institute
  • Leigh, Margaret
    • Affiliation: School of Medicine
  • Morton, Kenneth
    • Other Affiliation: CoVar Applied Technologies
  • Pfaff, Emily
    • Affiliation: School of Medicine, North Carolina Translational and Clinical Sciences Institute
  • Wang, Max
    • Other Affiliation: CoVar Applied Technologies
  • Yi, Hong
    • Affiliation: Renaissance Computing Institute
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.
Date of publication
Keyword
DOI
Identifier
Resource type
  • Article
Rights statement
  • In Copyright
License
  • Attribution 4.0 International
Journal title
  • Frontiers in Artificial Intelligence
Journal volume
  • 5
Language
  • English
Version
  • Publisher
ISSN
  • 2624-8212

Relations

Parents:

This work has no parents.

In Collection:

Items

Thumbnail Title Date Uploaded Visibility Actions
file details frai-05-918888.pdf 2022-07-06 Public Download