Lekárska genetika a diagnostika 2/2026

Coordinated care for undiagnosed patients

Patients with rare diseases often require care from multiple medical specialties as well as rehabilitation, psychological, social, educational, and other supportive services. European surveys involving patients and their families have highlighted insufficient coordination across these services and the considerable burden associated with navigating and organizing their own care. Patients who remain undiagnosed represent a particularly vulnerable group, as they may have complex needs but cannot rely on disease-specific recommendations to guide their management. The article introduces the concept of holistic and coordinated care and distinguishes a disease management plan from an individual overall care plan. It pays special attention to systematically assessing needs, defining the care pathway, and the role of the coordinator, who connects the various services and serves as a stable point of contact for the patient and their family. Based on current professional literature and foreign models, it makes specific recommendations for the systematic implementation of coordinated care for patients without a diagnosis in Slovakia, including defining the coordinator’s role, creating reimbursement mechanisms, a methodological framework for individual care planning, and interdepartmental connections between health, social, and other support services.

Keywords: rare diseases, holistic care, coordinated care, care coordinator