Identification of Rare Disease Patients in EHR Systems and their COVID-19 Outcomes: A Retrospective Study Using the National Covid Cohort Collaborative (N3C) Data

Authors

• AS Yadaw
• Q Zhu
• E Sid
• EA Mathé

Abstract

Several comorbid conditions have been widely recognized as risk factors for COVID-19 severity, but risks borne by people with preexisting rare diseases (RDs) are largely unknown. This study identifies rare disease patients and investigates their clinical association with COVID-19, using data from the National COVID Cohort Collaborative (N3C). We analyzed clinical data of 21,704,702 individuals in the (N3C), which included 4,857,628 COVID-19 positive cases. In our analysis, we utilized 350 ICD-10 codes and 10,565 SNOMED-CT codes which identify 2,523 rare diseases within the N3C enclave. These rare diseases were further classified by ORPHANET linearization classification into 19 distinct classes which brought in total 288,996 (5.95%) preexisting rare diseases COVID-19 positive patients. Our results concluded that the patients with rare diseases had significantly higher risks of mortality and hospitalization compared to patients without rare diseases. Patients with rare transplantation disease had significantly higher mortality risk ratio and hospitalization risk ratio than the other classes of rare diseases. Univariate logistic regression models demonstrated that individuals with a preexisting rare disease were associated with an elevated severity of COVID-19; (odds ratio [OR], 3.14; 95% confidence interval [CI]: 3.09 - 3.19; p < 0.001) for mortality and (odds ratio [OR], 3.50; 95% confidence interval [CI]: 2.47 - 2.53; p < 0.001) for hospitalization. Also, Patients with other rare disease classes showed higher COVID-19 severity as well. Our findings highlight the importance of prioritizing rare disease patients in preventive healthcare strategies to enhance their protection during the pandemic and future heath crises.

Scientific Focus Area: Epidemiology

This page was last updated on Tuesday, August 6, 2024