Clarifying the complex: New guidance for rare disease care

Rare diseases, defined as conditions with a prevalence of less than one in 2000, are a public health priority, as they are collectively common and associated with poor outcomes. General practitioners (GPs) are central to improving outcomes for people living with rare disease by providing holistic, lifelong and family-centred care. However, the complexity, number of rare diseases and system-wide limitations create challenges for GPs and patients alike.

This article outlines the challenges faced by people living with rare disease and highlights supportive resources for GPs to provide, facilitate and coordinate care.

The new National Recommendations for Rare Disease Health Care (the Recommendations), co-designed with people living with rare disease, provide practical guidance on supporting patients on their journeys. Using a case study, we show how GPs can use the Recommendations.