Exploring physicians' Perspectives on the Diagnosis Journey of Rare Diseases in the United States (US): Findings from a Cross Sectional Survey
Author(s)
Amina Omri, MA1, Marc DeCongelio, BS, MS2, Tim Irfan, Dipl.-Dok (FH), MBA3, Daniel Sterzi, MS4, Stacey Purinton, MBA, MPH, RN2, Perrine Le Calvé, MSc1, TAREK MNIF, PharmD1, Franco Esposito, BSc5, Joana E Matos, PhD6, Suzanne Reed, BA, MSc, PhD1;
1Oracle Life Sciences, Paris, France, 2Oracle Life Sciences, Austin, TX, USA, 3Oracle Life Sciences, Munich, Germany, 4Oracle Life Sciences, Madrid, Spain, 5All Global, London, United Kingdom, 6Rocket Pharmaceuticals, New Jersey, NJ, USA
1Oracle Life Sciences, Paris, France, 2Oracle Life Sciences, Austin, TX, USA, 3Oracle Life Sciences, Munich, Germany, 4Oracle Life Sciences, Madrid, Spain, 5All Global, London, United Kingdom, 6Rocket Pharmaceuticals, New Jersey, NJ, USA
Presentation Documents
OBJECTIVES: To understand primary care physicians (PCPs) and specialists’ perceptions of the diagnosis pathway for rare diseases in the United States (US).
METHODS: In May 2024, PCPs and specialists from the US were recruited via physician panels to complete an online survey. Physicians rated their perceptions of the diagnosis pathway for rare diseases using a seven-point Likert scale, with results categorized into: Disagree (scores of 1 - 3); Ambivalent (4); and Agree (5 - 7).
RESULTS: Participants included 158 PCPs and 321 specialists: cardiology (33), dermatology (32), pulmonology (31), obstetrics/gynecology (29), ophthalmology (28), pediatrics (28), neurology (23), urology (21), gastroenterology/hepatology (20), endocrinology/diabetology (19), rheumatology (18), hematology/oncology (17), infectious diseases (12), and nephrology (10). The proportion of physicians who agreed with the following statements were as follows: The delay between first symptoms and diagnosis is more problematic in rare diseases compared to other conditions (85% all physicians, 85% PCPs, 86% specialists), the lack of awareness amongst clinicians is one of the main causes of late or misdiagnosis of rare diseases (83%, 82%, 83%), patient referrals to confirm rare disease diagnoses take longer than non-rare disease (78%, 73%, 80%), and referring patients for confirmation of diagnoses involves more difficult decisions (72%, 68%, 74%). Physicians agreed on the need for more investigation/publication in rare diseases (74%, 67%, 78%) and the insufficiency of medical students’ education on rare disease manifestations (61%, 53%, 65%). Only 31% of physicians overall agreed on feeling familiar with rare diseases (24% PCPs, 35% specialists).
CONCLUSIONS: This study reveals that delays in diagnosis, lack of clinician awareness, and longer patient referrals are significant challenges in diagnosing rare diseases. Physicians highlight the need for more research, better medical education, and greater awareness. Despite recognizing these issues, only 31% of physicians felt familiar with rare diseases, indicating a need for improved knowledge.
METHODS: In May 2024, PCPs and specialists from the US were recruited via physician panels to complete an online survey. Physicians rated their perceptions of the diagnosis pathway for rare diseases using a seven-point Likert scale, with results categorized into: Disagree (scores of 1 - 3); Ambivalent (4); and Agree (5 - 7).
RESULTS: Participants included 158 PCPs and 321 specialists: cardiology (33), dermatology (32), pulmonology (31), obstetrics/gynecology (29), ophthalmology (28), pediatrics (28), neurology (23), urology (21), gastroenterology/hepatology (20), endocrinology/diabetology (19), rheumatology (18), hematology/oncology (17), infectious diseases (12), and nephrology (10). The proportion of physicians who agreed with the following statements were as follows: The delay between first symptoms and diagnosis is more problematic in rare diseases compared to other conditions (85% all physicians, 85% PCPs, 86% specialists), the lack of awareness amongst clinicians is one of the main causes of late or misdiagnosis of rare diseases (83%, 82%, 83%), patient referrals to confirm rare disease diagnoses take longer than non-rare disease (78%, 73%, 80%), and referring patients for confirmation of diagnoses involves more difficult decisions (72%, 68%, 74%). Physicians agreed on the need for more investigation/publication in rare diseases (74%, 67%, 78%) and the insufficiency of medical students’ education on rare disease manifestations (61%, 53%, 65%). Only 31% of physicians overall agreed on feeling familiar with rare diseases (24% PCPs, 35% specialists).
CONCLUSIONS: This study reveals that delays in diagnosis, lack of clinician awareness, and longer patient referrals are significant challenges in diagnosing rare diseases. Physicians highlight the need for more research, better medical education, and greater awareness. Despite recognizing these issues, only 31% of physicians felt familiar with rare diseases, indicating a need for improved knowledge.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
HSD42
Topic
Health Service Delivery & Process of Care
Disease
SDC: Rare & Orphan Diseases