Assessing Gaps in the Timely Referral of Patients for a Rare Disease Diagnosis: A Cross-Sectional Survey of Physicians in Europe

OBJECTIVES: To describe physicians’ perspectives on factors that would benefit the expeditious referral of suspected cases of rare diseases to rare disease specialists.

METHODS: In this cross-sectional study, primary care physicians (PCPs) and specialists were recruited via physician panels in France, Germany, Italy, Spain, and the United Kingdom (UK). They completed an online questionnaire in May 2024.

RESULTS: A total of 1,082 physicians participated: PCPs (320) and specialists (762) in cardiology (82), hematology/oncology (63), pediatrics (61), dermatology (61), pulmonology (61), obstetrics/gynecology (60), endocrinology/diabetology (54), neurology (48), gastroenterology (46), rheumatology (46), internal medicine (43), ophthalmology (42), urology (42), nephrology (33), and infectious diseases (20). Factors ranked by physicians as the most useful to facilitate the timely referral of patients with suspected rare diseases included better access to diagnostic tests (12% overall, 13% PCPs, 12% specialists), clinical practice guidelines (12% overall, 14% PCPs, 12% specialists), better communication between physicians’ settings and rare disease centers (12% overall, 10% PCPs, 12% specialists), training in medical procedures (11% overall, 12% PCPs, 11% specialists), access to a rare disease online learning platform (9% overall, 10% PCPs, 9% specialists), telephone consultations with rare disease specialists (8% overall, 12% PCPs, 6% specialists), more time to investigate clinical aspects (7% overall, 6% PCPs, 7% specialists), longer patient visits (6% overall, 6% PCPs, 6% specialists), and computerized medical expert systems (6% overall, 4% PCPs, 6% specialists). Country-level differences were observed: computerized medical expert systems (range: 2% UK, 15% Germany), training in medical procedures (range: 5% Germany, 15% UK), more time to investigate clinical aspects (range: 3% France, 14% Germany), longer patient visits (range: 2% Italy, 10% Spain), and clinical practice guidelines (range: 10% Germany, 15% UK).

CONCLUSIONS: Understanding which resources physicians would find useful to facilitate the timely referral of patients with suspected rare diseases may improve patient care.