Preventing gatekeeping delays in the diagnosis of rare diseases

GPs acting as gatekeepers render a healthcare system easily accessible as well as affordable. However, gatekeeping can have an important drawback: it may hamper timely diagnosis and treatment of patients suffering from a rare disease (incidence <1:2000),1 especially if patients present with common symptoms. This delays referral, possibly resulting in permanent organ damage, reduction in quality of life, and increased healthcare costs. In this article we reflect on both organisational and GP factors that contribute to the problem, and offer suggestions on organisational and educational approaches to tackling it.