Identifying Drivers for the Timely Referral of Patients for a Rare Disease Diagnosis: A Cross-Sectional Survey of Physicians in the United States
Author(s)
Marc DeCongelio, BS, MS1, Perrine Le Calvé, .2.
1Associate Principal, Oracle Life Sciences, Austin, TX, USA, 2Oracle Life Sciences, Paris, France.
1Associate Principal, Oracle Life Sciences, Austin, TX, USA, 2Oracle Life Sciences, Paris, France.
Presentation Documents
OBJECTIVES: To describe physicians’ perspectives on factors that would expedite the 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 the United States (US). They completed an online questionnaire in May 2024.
RESULTS: A total of 479 physicians participated: PCPs (158) and specialists (321) in cardiology (33), dermatology (32), pulmonology (31), obstetrics/gynecology (29), pediatrics (28), ophthalmology (28), neurology (23), urology (21), gastroenterology (20), endocrinology/diabetology (19), rheumatology (18), hematology/oncology (17), infectious diseases (12), and nephrology (10).
In total, 78% of physicians agree that patient referrals to confirm rare disease diagnoses typically take longer than those for other conditions; 72% agree that referring patients for a confirmation of a rare disease diagnosis involves more difficult decisions than referrals for more common conditions, and 54% agree that most patients with rare diseases receive appropriate treatment too late.
Factors ranked by physicians as most useful to facilitate the timely referral of patients with suspected rare diseases varied between PCPs and specialists. PCPs chose better communication between physicians’ practices and rare disease centers (14%), better access to diagnostic tests (10%), readily available clinical practice guidelines (10%), and training in medical procedures (10%) as the most useful. Specialists chose readily available clinical practice guidelines (16%), better access to diagnostic tests (13%), and more time to investigate clinical aspects (9%) as most useful.
CONCLUSIONS: The majority of physicians recognize the difficulty of diagnosing rare diseases and many agree that patients receive appropriate treatment too late. Readily available clinical practice guidelines, better access to diagnostic tests, and better communication between physicians’ practices and rare disease centers could help facilitate the timely referral of patients with suspected rare diseases to expedite time to appropriate treatment and ultimately improve patient care.
METHODS: In this cross-sectional study, primary care physicians (PCPs) and specialists were recruited via physician panels in the United States (US). They completed an online questionnaire in May 2024.
RESULTS: A total of 479 physicians participated: PCPs (158) and specialists (321) in cardiology (33), dermatology (32), pulmonology (31), obstetrics/gynecology (29), pediatrics (28), ophthalmology (28), neurology (23), urology (21), gastroenterology (20), endocrinology/diabetology (19), rheumatology (18), hematology/oncology (17), infectious diseases (12), and nephrology (10).
In total, 78% of physicians agree that patient referrals to confirm rare disease diagnoses typically take longer than those for other conditions; 72% agree that referring patients for a confirmation of a rare disease diagnosis involves more difficult decisions than referrals for more common conditions, and 54% agree that most patients with rare diseases receive appropriate treatment too late.
Factors ranked by physicians as most useful to facilitate the timely referral of patients with suspected rare diseases varied between PCPs and specialists. PCPs chose better communication between physicians’ practices and rare disease centers (14%), better access to diagnostic tests (10%), readily available clinical practice guidelines (10%), and training in medical procedures (10%) as the most useful. Specialists chose readily available clinical practice guidelines (16%), better access to diagnostic tests (13%), and more time to investigate clinical aspects (9%) as most useful.
CONCLUSIONS: The majority of physicians recognize the difficulty of diagnosing rare diseases and many agree that patients receive appropriate treatment too late. Readily available clinical practice guidelines, better access to diagnostic tests, and better communication between physicians’ practices and rare disease centers could help facilitate the timely referral of patients with suspected rare diseases to expedite time to appropriate treatment and ultimately improve patient care.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
HSD83
Topic
Health Service Delivery & Process of Care
Disease
SDC: Rare & Orphan Diseases