Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey

Abstract

Purpose: Recognizing rare diseases (RDs) and initiating appropriate investigation and referral is critical for timely diagnosis. Unfortunately, patients with RDs experience significant diagnostic delays, potentially leading to inappropriate or harmful testing or treatment and disease progression. Methods: A 14-question survey assessing clinician knowledge, experience, and educational needs in RDs was emailed to US and European Union Medscape member clinicians. The survey was available from April 1, 2021, through August 2, 2021. Results: The respondents included 978 clinicians across 16 specialties. Two-thirds of the respondents considered RDs to be 50 to 500 times rarer than standard European Union or US definitions, and despite a point prevalence of 3.5% to 5.9%, 59% said they never or rarely (1× or 2× per year) see patients with RDs. Although 87% have been involved in an RD diagnosis, only 19% were mostly or very confident in making a diagnosis. In addition, 38% to 44% reported diagnostic barriers such as knowledge of signs/symptoms, time to investigate, guideline availability, test access, and referrals. Highest RD education preferences included a comprehensive online learning platform with current education and resources and case-based, text-based, and short formats (≤15 minutes) taught by world-renowned clinicians. Conclusion: This research study identified RD knowledge gaps, highlighting the need for education to shorten the diagnostic odyssey, which can enable earlier referral and treatment.

Keywords

• Education
• Multinational
• Multispecialty
• Rare disease
• Survey