Towards Diagnosing Rare Diseases: Referral Behavior of Physicians in Europe

Author(s)

Omri A1, DeCongelio M2, Irfan T3, Sterzi D4, Le Calvé P1, Vincent B1, Esposito F5, Collin-Histed T6, Reed S7
1Cerner Enviza, Paris, France, 2Cerner Enviza, North Kansas City, MO, USA, 3Cerner Enviza, Munich, Munich, Germany, 4Cerner Enviza, Madrid, Madrid, Spain, 5Kantar Profiles, London, London, UK, 6International Gaucher Alliance (IGA), London, UK, 7Cerner Enviza, Paris, 75, France

OBJECTIVES: To investigate the referral behavior of primary care physicians (PCPs) and specialists when encountering patients with undiagnosed symptoms.

METHODS: This cross-sectional study surveyed PCPs and specialists in Europe (France, Germany, Italy, Spain, United Kingdom [UK]). Participants were recruited via physician panels in January 2023 and completed an online questionnaire.

RESULTS: The study involved 478 PCPs and 1,132 specialists: hematology/oncology (176), internal medicine (112), cardiology (106), neurology (99), pediatrics (88), dermatology (82), ophthalmology (77), endocrinology/diabetology (77), rheumatology (71), gastroenterology/hepatology (67), obstetrics/gynecology (63), urology (53), nephrology (41), and infectious diseases (20). When unable to diagnose symptoms, 11.9% of PCPs and 24.7% of specialists (rising to 41.4% of neurologists) frequently suspected a rare disease. Physicians referred patients after the initial visit (16.0% overall, 11.1% PCPs, 18.1% specialists [range: 6.0% gastroenterologists, 35.1% ophthalmologists]), second visit (43.7% overall, 42.5% PCPs, 44.2% specialists), or third or later visit (40.3% overall, 46.4% PCPs, 37.7% specialists). Waiting for (or inconclusive) test results was the primary reason for delaying referral: 54.7% overall, 49.9% of PCPs, and 56.9% of specialists (range: 44.9% neurologists, 76.3% nephrologists). Primary reasons differed by country: waiting for (or inconclusive) test results (range: 42.1% Germany, 58.3% Italy), preferring to wait/watch (range: 9% Italy, 20% France), delays in scheduling appointments with other physicians (range: 9.9% Italy, 18.5% Germany). Secondary reasons included symptoms not being applicable to the physician/not wanting to interfere (PCPs: 4.24%; specialists: 10.9%; p<0.001) and long waiting lists (72.2% PCPs, 46.5% specialists, p<0.001). Country differences were observed: desire of patients to not see another physician (range: 10.0% UK, 33.8% Germany), symptoms not applicable to physician/not wanting to interfere (range: 4.3% Italy, 16.2% Germany), and scheduling complexities/paperwork (range: 7.3% France, 17.6% Spain).

CONCLUSIONS: Differences in referral behavior exist among PCPs and specialists, within specialties, and across countries. Improved referral procedures could benefit patient care.

Conference/Value in Health Info

2023-11, ISPOR Europe 2023, Copenhagen, Denmark

Value in Health, Volume 26, Issue 11, S2 (December 2023)

Code

HSD93

Disease

No Additional Disease & Conditions/Specialized Treatment Areas, Rare & Orphan Diseases

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