Expert-Based, Institutional Approaches for Reducing the Diagnostic Odyssey of Patients With Inborn Errors of Immunity

Inborn errors of immunity (IEIs) are a heterogeneous group of genetic disorders with long diagnostic delay that negatively impacts patient outcomes. To combat delay, 8 multidisciplinary experts from different disciplines convened to generate 11 consensus-based statements that address approaches that could reduce the diagnostic journey of patients with IEIs. Nine of these statements relate to the development and implementation of automated decision support tools to improve rapidity of diagnosis by augmenting clinical decision-making for practitioners with or without IEI experience. Strengths and limitations of such tools as well as considerations for development and implementation are discussed. Two consensus statements were generated to support the development of successful multidisciplinary care teams to facilitate optimal evaluation of patients identified to be at risk of IEI. We discuss essential components for developing a multidisciplinary care team, including clinical interest, institutional and financial support, and crucial team members. Both of these approaches may increase diagnostic accuracy for patients with IEIs and lead to improvements in care.