Primary immunodeficiency diseases (PID) are more than 400 rare immune disorders, in which diagnostic delay is about 8.8 years with up to 50% of people with PID undiagnosed worldwide. With the PID Early Diagnosis (PED) project, our team will promote selected cost-effective and patient based actions to improve an early diagnosis of PID in the era of the European Reference Network.
The PED project is organized as follows: (1) Promotion of newborn screening (NBS) for severe combined immunodeficiencies (SCID) in the three involved regions; (2) Creation of a computer-based algorithm to allow early diagnosis of PID in primary care (PIDCAP project) (3) Design of a dedicated clinical pathway (PDTA) for PID; (4) Development of an online educational tool for non-immunologists and patients.
The PED project is a patient-centered and doctor driven initiative that works into integrated practice units. NBS for SCID and a pilot phase with around 300.000 individuals of the PIDCAP project are already implemented in Catalonia. A PDTA has already been organized in Marche Region (Italy) with the subsequent approval by the Health Administration. PED is closely working with the Italian Association for PID (AIP), the Catalan Association for PID (ACADIP), the Barcelona-PID Foundation, and BUBBLE ID (PID patient organization Ghent).
This combination of efforts constitutes a very powerful initiative that is pivotal for early diagnosis of PID. Pharmaco-economic analysis and dissemination activities to promote the incorporation of these strategies into international guidelines need to be carried out.