OBJECTIVES: To investigate the emotional impact on primary care physicians (PCPs) and specialists when a patient is newly diagnosed with a rare disease.

METHODS: In this cross-sectional study, PCPs and specialists in Europe (France, Germany, Italy, Spain, United Kingdom [UK]) and the United States (US) were recruited through physician panels in January 2023 and asked to complete an online questionnaire.

RESULTS: In total, 2,292 physicians in Europe (1,610) and the US (682) participated: PCPs (687) and specialists in hematology/oncology (204), cardiology (164), pediatrics (154), neurology (138), ophthalmology (126), dermatology (125), internal medicine (112), obstetrics/gynecology (110), endocrinology/diabetology (104), gastroenterology/hepatology (102), rheumatology (101), urology (72), nephrology (56), and infectious diseases (37). Physicians considered 6.6% of their patients to have a rare disease. Specialists more frequently suspected a rare disease when unable to diagnose symptoms (25.3% vs. 15.3% PCPs). Overall, physicians felt challenged (50.3%), excited (28.9%), hopeful (19.2%), confident (13.4%), nervous (8.9%), sad (8.2%), intimidated (6.4%), frustrated (6.3%), and overwhelmed (6.2%) when patients were diagnosed with a rare disease. Physicians in the US were more likely than their European counterparts to feel challenged (71.0% vs 41.6%, p<0.001), nervous (13.5% vs 7.0%, p<0.001), intimidated (10.7% vs 4.5%, p<0.001), and heartbroken (4.3% vs 1.9%, p<0.001). Physicians in Europe more often felt helpless (10.6% vs 4.0%, p<0.001). Feeling challenged was reported by 62.7% of ophthalmologists and 59.1% of pediatricians (the latter rising to 80.3% in the US, n=53). Feeling excited was common in hematology/oncology (41.7%) and endocrinology/diabetology (38.5%). Feeling hopeful was reported by neurologists (23.9%), gastroenterologists/hepatologists (23.5%), and cardiologists (22.6%). Pediatricians reported feeling sad (US: 27.3%, Europe: 14.8%) and nervous (US: 21.2%, EU: 9.1%).

CONCLUSIONS: When patients are diagnosed with a rare disease, physicians’ emotions (varying by specialty and region) are impacted. These findings may inform the development of strategies to support physicians and patient-physician relationships.