NextPIDCAP: Implementing a standardized clinical decision support tool to enhance early identification of primary immunodeficiencies

Short description: Primary immunodeficiencies (PIDs), or inborn errors of immunity (IEIs), are rare diseases with increased susceptibility to infections, autoimmune diseases, and malignancies. Diagnostic delays often exceed 5–10 years, worsening outcomes. Early identification relies on awareness and timely referral to reference centers. Interoperable health data and standardized clinical criteria offer a unique chance to reduce delays. PIDCAP, developed by VHIR’s Infection and Immunity in Pediatric Patients group and the DS3 research group, uses standardized criteria and EHR interoperability to enable early IEI detection in primary care via alerts. PIDCAP’s expert-derived scoring system integrates into digital platforms to identify at-risk patients. Piloted successfully in Catalonia (a PRECISEU region), it showed feasibility, acceptance, and improved diagnostic suspicion. PIDCAP plans to scale locally and internationally through standardized implementation and federated learning—a privacy-preserving collaboration technology—across PRECISEU sites, the Netherlands, then the US, UK, Chile, Germany, Sweden, and beyond. Using common ontologies and semantic interoperability, it supports robust predictive modeling. PIDCAP’s federated approach is a scalable model for personalized medicine, applicable to other diseases, addressing fragmentation and healthcare inequalities in Europe. Project duration: 36 months

Project objectives: PIDCAP aligns with PRECISEU’s goals to advance equitable, personalized healthcare through digital innovation and cross-regional collaboration. By embedding expert-based clinical logic into interoperable primary care systems, PIDCAP democratizes access to specialized knowledge in rare diseases like IEI. In Catalonia, it enables healthcare professionals in rural or underserved areas—traditionally outside reference centers’ influence—to benefit from the same decision support available in tertiary settings. This reduces internal healthcare inequities and decentralizes early diagnosis, a key PRECISEU goal. Internationally, PIDCAP supports connecting innovation ecosystems across Europe. Its federated learning design enables secure, privacy-compliant collaboration and scalable deployment of predictive tools. PIDCAP also provides a transferable model for integrating expert consensus into clinical workflows, supporting health data use and personalized medicine sustainability.

Support required for the proposal: We would greatly benefit from support to fine-tune our project, ensuring it is robust and adaptable for implementation across the PRECISEU regions. While we have strong expertise in health data standards and implementation science, this call offers valuable guidance to enhance sustainability and maximize regional impact. Although we’ve begun preliminary contacts in eligible regions, we would highly appreciate support in building stronger, more collaborative partnerships within the PRECISEU areas.

Need for capacities:
For this project, it is highly beneficial to collaborate with partners showing strong coordination between primary and secondary care—crucial for testing external validation of this clinical decision support tool for early identification of primary immunodeficiencies. The framework may later extend to other rare diseases. Partners committed to adopting health data standards and open architectures are also key to ensuring solution scalability.