Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings - the PIDCAP Project

Abstract

Early diagnosis of inborn errors of immunity (IEIs) has been shown to reduce mortality, morbidity, and healthcare costs. The need for early diagnosis has led to the development of computational tools that trigger earlier clinical suspicion by physicians. Primary care professionals serve as the first line for improving early diagnosis. To this end, a computer-based tool (based on extended Jeffrey Modell Foundation (JMF) Warning Signs) was developed to assist physicians with diagnosis decisions for IEIs in the primary care setting. Two expert-guided scoring systems (one pediatric, one adult) were developed. IEI warning signs were identified and a panel of 36 experts reached a consensus on which signs to include and how they should be weighted. The resulting scoring system was tested against a retrospective registry of patients with confirmed IEI using primary care EHRs. A pilot study to assess the feasibility of implementation in primary care was conducted. The scoring system includes 27 warning signs for pediatric patients and 24 for adults, adding additional clinically relevant criteria established by expert consensus to the JMF Warning Signs. Cytopenias, ≥ 2 systemic infections, recurrent fever and bronchiectasis were the leading warning signs in children, as bronchiectasis, autoimmune diseases, cytopenias, and > 3 pneumonias were in adults. The PIDCAP (Primary Immune Deficiency "Centre d'Atenció Primària" that stands for Primary Care Center in Catalan) tool was implemented in the primary care workstation in a pilot area. The expert-based approach has the potential to lessen under-reporting and minimize diagnostic delays of IEIs. It can be seamlessly integrated into clinical primary care workstations.

Keywords: Inborn errors of immunity; Jeffrey Modell Foundation; computer-assisted medicine; early diagnosis; expert-driven scoring system; primary immunodeficiencies; rare disease; warning signs.

Fig. 1

Agreement refers to the degree of agreement or disagreement with the proposed items and their weight. Results from 16 survey respondents, 11 of whom are identified as pediatric immunologists, 1 as an adult/general immunologist and 4 as primary care pediatricians. HSV: Herpes Simplex Virus, IEI: inborn errors of immunity

Fig. 2

Agreement refers to the degree of agreement or disagreement with the proposed items and their weighting. Results from 10 survey respondents, 9 of whom are identified as adult immunologists, and 1 as a primary care physician. HSV: Herpes Simplex Virus, IEI: Inborn errors of immunity, TB: Tuberculosis