Diagnostic trajectories of patients with rare cancer in the Netherlands: results from a nationwide cross-sectional survey

Diagnosing rare cancers is challenging and often leads to prolonged diagnostic trajectories. This study investigated the diagnostic trajectory of patients with rare cancers in The Netherlands. Data from 1541 patients were recruited via patient advocacy in a national online survey on their diagnostic trajectory, such as first general practitioner (GP) consultation to hospital referral and number of hospital visits before final diagnosis. Differences between solid vs. non-solid tumours and EURACAN domains were explored. Diagnostic timelines varied from less than 3 months to over 12 months. Most patients (76.0%) first consulted their GP before going to a hospital. 76.3% of all patients were referred to a hospital within less than 3 months. 32.1% reported receiving an incorrect diagnosis, and 44.6% of them underwent treatment or medication for the (perceived) incorrect diagnosis. Patients with solid vs. non-solid rare cancers trajectories differed significantly for treatment hospital, route to diagnosis, correctness of initial diagnosis, and number of hospital visits before correct diagnosis (all p < 0.001). Patients with neuroendocrine (NET; 21.7%) and endocrine tumours (17.5%) experienced longer GP-to-hospital visit waiting times. Patients with non-solid cancers often received a correct diagnosis after one hospital visit (75%) when compared with patients with solid cancer (2+ = 57.7%). Those with rare skin cancer and non-cutaneous melanoma, head and neck, and thoracic cancer visited multiple hospitals before an accurate diagnosis (56.7%, 53.8%, and 50.0%). Patients with rare cancers face significant challenges with diagnostic delays and inaccuracies. Researching symptom signatures and investing in regional clinical networks might improve diagnostic timelines.