Patients’ Rare Disease Diagnoses and Their Impact on Physicians’ Emotions: A Cross-Sectional Study in the United States

OBJECTIVES: To describe the emotions that primary care physicians (PCPs) and specialists in the United States (US) experience when their patients are diagnosed with a rare disease.

METHODS: In this cross-sectional study, PCPs and specialists were recruited via physician panels in the US. They completed an online questionnaire in January 2023.

RESULTS: A total of 682 physicians participated: PCPs (209) and specialists (473) in pediatrics (66), cardiology (58), ophthalmology (49), obstetrics/gynecology (47), dermatology (43), neurology (39), gastroenterology/hepatology (35), rheumatology (30), hematology/oncology (28), endocrinology/diabetology (27), urology (19), infectious diseases (17), and nephrology (15). PCPs and specialists, respectively, estimated that 5.5% and 7.4% of their patients had a rare disease (p=0.03). This was highest among hematologists/oncologists (15.8% of patients) and lowest among infectious disease specialists (3.2% of patients). When unable to diagnose symptoms, 24.4% of PCPs and 23.3% of specialists never/very rarely/rarely suspected a rare disease. When learning of their patients’ rare disease diagnosis, PCPs and specialists felt challenged (71.3% and 70.8%, respectively), fearful (77.5% and 77.6%, respectively), and joyful (46.4% and 48.2%, respectively). Despite PCPs having a significantly lower caseload of patients with a rare disease, there were no statistically significant differences between PCPs and specialists in any emotion. Physicians’ emotions differed by type of specialist and encompassed a broad range: fearful (pediatricians: 86.4%, infectious disease experts: 58.8%), challenged (pediatricians: 80.3%, nephrologists: 53.3%), joyful (hematologists/oncologists: 60.7%, nephrologists: 26.7%), excited (neurologists: 41.0%, urologists: 10.5%), hopeful (rheumatologists: 36.7%, nephrologists: 6.7%), confident (hematologists/oncologists: 28.6%, obstetricians/gynecologists: 8.5%), intimidated (endocrinologists/diabetologists: 22.2%, hematologists/oncologists: 0.0%), and nervous (pediatricians: 21.2%, dermatologists: 9.3%).

CONCLUSIONS: Physicians experience a range of emotions when learning about their patients’ rare diseases and these vary between specialties. Further research should clarify why physicians feel these emotions (e.g., challenged). These results may inform the development of mechanisms to support physicians and enhance patient-physician relationships.