OBJECTIVES: To explore perceptions of primary care physicians (PCPs) and specialists regarding the diagnosis pathway of rare diseases in Europe.

METHODS: In May 2024, PCPs and specialists from France, Germany, Italy, Spain, and the United Kingdom (UK) were recruited via physician panels to complete an online survey. Physicians rated their perceptions of the diagnosis pathway of rare diseases using seven-point Likert scale, with results categorized into: Disagree (answers of 1 - 3); Ambivalent (4); and Agree (5 - 7).

RESULTS: Participants included 320 PCPs and 762 specialists: cardiology (82), hematology/oncology (63), dermatology (61), pediatrics (61), pulmonology (61), obstetrics/gynecology (60), endocrinology/diabetology (54), neurology (48), gastroenterology/hepatology (46), rheumatology (46) internal medicine (43), ophthalmology (42), urology (42), nephrology (33) and infectious diseases (20).The proportion of physicians who agreed with the following statements were:

The delay between first symptoms and the diagnosis is more problematic in rare diseases compared to other conditions (88% agreed overall, 87% PCPs, 89% specialists), patient referrals to confirm rare diseases diagnoses take longer (82% overall, 78%, 83%), and referring patients for confirmation of diagnoses involves more difficult decisions (76% overall, 74%, 77%). Physicians agreed that the lack of awareness amongst clinicians is one of the main causes of late/misdiagnosis of rare diseases (78% overall, 74%, 79%). Physicians agreed on the need for more investigation/publication in rare diseases (85% overall, 80%, 86%) and the insufficiency of medical students’ education on rare disease manifestations (71% overall, 71%, 71%). Only 27% of physicians overall agreed on feeling familiar with rare diseases (19% PCPs, 30% specialists).

CONCLUSIONS: There is consensus regarding the challenges in diagnosing rare diseases, and a clear call for increased research and improvements in medical education. Addressing these issues may better equip healthcare professionals in effectively diagnosing and managing rare diseases.