University of Iowa College of Medicine

Reducing Delays in Diagnosing Primary Immunodeficiency Through the Development and Implementation of a Clinical Decision Support Tool

Project Lead: Bharat Kumar, MD

Project AIM(s): Aim #1: Identify the total number of patients who present to the University of Iowa General Internal Medicine, Pediatrics, or Family Medicine clinics with two or more warning signs of a PI over a 12-month period. 

Aim #2: Refer at least 10% of these identified patients to a University of Iowa clinical immunologist for evaluation within 12 months of their initial presentation. 

Narrative Description: 

We experienced three major challenges that delayed the Implementation and Control phases. 

  • The loss of Clinical Immunologists from our Division: At the beginning of the project, there were 6 clinical immunologists in our division.  About 9 months into the project, three had left, which had meant three clinical immunologists remained.  The priorities of the Division of Immunology had changed so that there was less priority on identifying new patients with immunodeficiency to managing existing and triaging patients with immunodeficiency. 
  • The rise of Omicron and Delta variants: The rise of the Omicron and Delta variants of COVID19 were major external stressors for the project.  Because immunodeficient populations are more likely to experience higher morbidity and mortality, many clinical resources were re-allocated to help mitigate harms to the known population. 
  • Loss of technical expertise: During the course of the analyze phase, the degree of technical support for the implementation of the project had changed.  Leadership had changed within the institution and new relationships had to be developed and inculcated to move the project forward. 

The key finding is that immunodeficiency identification has to start at the level of the patient.  The documentation of findings that would be consistent with immunodeficiency are non-standardized and likely underreported in electronic healthcare records.  In interviews with patients, the lack of recognition of immunodeficiency as a core cause of their many symptoms was a key driver in diagnostic delays.  This was unexpected, since we were anticipating that the lack of synthesis of the symptoms into a common diagnosis was the source of diagnostic delays.  This also meant that algorithms to identify immunodeficiency had to be modified iteratively in order to account for more ambiguous documentation that could potentially signify immunodeficiency. 

There are three takeaways from our experience: 

  • External factors, namely the pandemic and its downstream effects on patient priorities and workforce, need to be liberally accounted for in project planning.  While we anticipated challenges due to the ongoing pandemic, we underestimated its outsized effects on immune deficient patients and clinicians who manage primary immune deficiencies.  As these external stressors abate, we intend on completing the final stages of our project and disseminating data accordingly. 
  • There is a profound mismatch between patient experiences of primary immune deficiency and documentation in the chart by non-immunologists.  This creates a misalignment that decreases the efficiency of clinical decision support tools in identifying primary immune deficiency.  This is likely present in other conditions as well and highlights the need for better communication skills by clinicians to more clearly articulate and document patient’s needs and concerns in the chart.  That way, these can be picked up by an algorithm for further diagnostic decision-making. 
  • Lean Six Sigma, and specifically Define-Measure-Analyze-Improve-Control (DMAIC), is useful in framing large quality improvement projects.  Despite setbacks in the improve and control phases, we were able to obtain many vital insights in the Define, Measure, and Analyze phases that empower further scholarly inquiry and systems-based improvement.