ArticleGenetics in medicine open2023
Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey.
Article in Genetics in medicine open, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- The social construction of the "good doctor": Expectations of physicians among adults with NF1.Journal of community genetics · 2026Article
- Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review.JMIR medical education · 2026Article
- Medics for Rare Disease: advocating for rare disease training.Nature reviews. Cardiology · 2026Article
- Achalasia: Physician Practices and Knowledge in Türkiye.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2026Article
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- "We are ambassadors, we are advocates": rare disease patient advocacy groups as knowledge brokers across health and social systems-a qualitative study from Poland.Frontiers in public health · 2026Article
- Rare diseases in children-Knowledge, experiences and challenges faced by pediatricians in Tanzania.PLOS global public health · 2026Article
- A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.Molecular genetics & genomic medicine · 2025Review
- Rare disease education in medical schools: patient-centered and innovative strategies.Orphanet journal of rare diseases · 2025Article
- Rare Diseases and Educational Tools for Advanced Practitioners.Journal of the advanced practitioner in oncology · 2025Article
- Effects of continuing medical education on emergency trainees' rare disease knowledge and attitude: a single-center study.BMC medical education · 2025Article
- Hospital administrators as forgotten partners in rare disease care: a call to action by the international hospital federation's global rare pediatric disease network.Orphanet journal of rare diseases · 2024Article
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- Assessing the Utility of a Patient-Facing Diagnostic Tool Among Individuals With Hypermobile Ehlers-Danlos Syndrome: Focus Group Study.JMIR formative research · 2024Article
- Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force.Therapeutic advances in rare diseaseReview
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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