Rare Disease Awareness Among Physicians in Five European Countries: Results of a Cross-Sectional Survey
Author(s)
Suzanne Reed, BA, MSc, PhD1, Marc DeCongelio, BS, MS2, Daniel Sterzi, MS3, Tim Irfan, MS4, Stacey Purinton, MBA, MPH, RN5, Perrine Le Calvé, MSc1, Amina Omri, MA1, TAREK MNIF, PharmD1, Franco Esposito, BSc6, Tanya Louise Collin-Histed, .7.
1Oracle Life Sciences, Paris, France, 2Oracle Life Sciences, Denville, NJ, USA, 3Oracle Life Sciences, Madrid, Spain, 4Oracle Life Sciences, Munich, Germany, 5Oracle Life Sciences, Kansas City, MO, USA, 6All Global, London, United Kingdom, 7International Gaucher Alliance, London, United Kingdom.
1Oracle Life Sciences, Paris, France, 2Oracle Life Sciences, Denville, NJ, USA, 3Oracle Life Sciences, Madrid, Spain, 4Oracle Life Sciences, Munich, Germany, 5Oracle Life Sciences, Kansas City, MO, USA, 6All Global, London, United Kingdom, 7International Gaucher Alliance, London, United Kingdom.
OBJECTIVES: To assess physicians’ knowledge of rare diseases and to describe their primary educational resources.
METHODS: In this cross-sectional study, primary care physicians (PCPs) and specialists were recruited via physician panels in France, Germany, Italy, Spain, and the United Kingdom (UK). They completed an online questionnaire in May 2024.
RESULTS: A total of 1,082 physicians participated in France (42 PCPs / 103 specialists), Germany (33 PCPs / 144 specialists), Italy (84 PCPs / 207 specialists), Spain (81 PCPs / 207 specialists) and the UK (80 PCPs / 101 specialists). Physicians estimated 4.2% of their caseload had a rare disease (range: 3.6% Germany, 5.0% France). Survey questions involved physicians’ knowledge of rare diseases. Overall, fewer than half the physicians correctly identified the prevalence of rare diseases (39% overall; range: 27% France, 44% UK) or the proportions which are genetic (41% overall, range: 28% Italy, 56% Spain) or exclusively pediatric (26% overall, range: 16% Germany, 31% Italy). In total, 49% considered an erroneous definition of rare diseases to be correct (range: 41% Germany, 54% France). Primary sources of information included scientific literature (70% overall; range: 60% UK, 74% Germany), the internet (e.g., Orphanet) (56% overall; range: 49% Spain, 63% France) and conferences/symposia (47% overall; range: 44% Spain, 50% France / UK). Overall, fewer than a quarter of physicians accessed Centers of Expertise / European Reference Networks (19% overall, range: 15% Italy, 24% France), in-house hospital/practice training (22% overall, range: 12% Germany, 27% Italy) or patient organization programs (11% overall, range: 4% Germany, 15% Spain).
CONCLUSIONS: Identifying rare disease knowledge gaps may inform future training of physicians. Improved awareness and increased use of available educational resources could reduce the challenges of diagnosing and treating rare diseases and lead to improved patient outcomes.
METHODS: In this cross-sectional study, primary care physicians (PCPs) and specialists were recruited via physician panels in France, Germany, Italy, Spain, and the United Kingdom (UK). They completed an online questionnaire in May 2024.
RESULTS: A total of 1,082 physicians participated in France (42 PCPs / 103 specialists), Germany (33 PCPs / 144 specialists), Italy (84 PCPs / 207 specialists), Spain (81 PCPs / 207 specialists) and the UK (80 PCPs / 101 specialists). Physicians estimated 4.2% of their caseload had a rare disease (range: 3.6% Germany, 5.0% France). Survey questions involved physicians’ knowledge of rare diseases. Overall, fewer than half the physicians correctly identified the prevalence of rare diseases (39% overall; range: 27% France, 44% UK) or the proportions which are genetic (41% overall, range: 28% Italy, 56% Spain) or exclusively pediatric (26% overall, range: 16% Germany, 31% Italy). In total, 49% considered an erroneous definition of rare diseases to be correct (range: 41% Germany, 54% France). Primary sources of information included scientific literature (70% overall; range: 60% UK, 74% Germany), the internet (e.g., Orphanet) (56% overall; range: 49% Spain, 63% France) and conferences/symposia (47% overall; range: 44% Spain, 50% France / UK). Overall, fewer than a quarter of physicians accessed Centers of Expertise / European Reference Networks (19% overall, range: 15% Italy, 24% France), in-house hospital/practice training (22% overall, range: 12% Germany, 27% Italy) or patient organization programs (11% overall, range: 4% Germany, 15% Spain).
CONCLUSIONS: Identifying rare disease knowledge gaps may inform future training of physicians. Improved awareness and increased use of available educational resources could reduce the challenges of diagnosing and treating rare diseases and lead to improved patient outcomes.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
HSD91
Topic
Health Service Delivery & Process of Care
Disease
Rare & Orphan Diseases