Research Article

Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians

Volume: 17 Number: July, August, September 2026 September 17, 2026

Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians

Abstract

Purpose: Limited physician knowledge of rare diseases is a well-established contributor to diagnostic delay. This crosssectional study aimed to assess and compare rare disease knowledge and healthcare infrastructure awareness among pediatric and family medicine resident physicians in Türkiye, and to identify specialty-specific educational deficiencies in postgraduate training. Methods: A total of 149 resident physicians (64 pediatric, 85 family medicine) completed a structured, self-administered questionnaire adapted from a validated, internationally employed instrument. Knowledge performance was quantified using precision, recall, and the F1 score as the primary composite metric. Participants were dichotomized into adequate and inadequate knowledge groups based on the sample median F1 score. Results: The mean F1 score was 0.66 ± 0.21, with 51.7% of participants classified as having adequate knowledge. Contrary to the a priori hypothesis, family medicine resident physicians outperformed their pediatric counterparts (60.0% vs. 40.6%; p = 0.019). Mean precision was relatively high (85.03%), whereas mean recall was markedly lower (57.79%). Notably, resident physicians in institutions without a genetics unit and/or a metabolism unit demonstrated higher knowledge levels, a finding that may reflect increased self-directed learning in the absence of specialist support (p = 0.036). Healthcare infrastructure awareness was critically low: Orphanet was recognized by only 18.8% of participants, and only 18.1% were aware that a mere fraction of rare diseases are amenable to pharmacological treatment. Conclusion: Rare disease knowledge and infrastructure awareness are inadequate among pediatric and family medicine resident physicians, irrespective of training year or clinical exposure. Structured curricular content emerges as the primary determinant of recognition performance. Mandatory integration of standardized rare disease education into residency programs constitutes a necessary and actionable step toward reducing diagnostic delay.

Keywords

Ethical Statement

This study was conducted in accordance with the ethical principles outlined in the Declaration of Helsinki. Ethical approval was obtained from the Non-Interventional Clinical Research Ethics Committee of Samsun University prior to data collection (Protocol No: GOKAEK 2025/20/1). All participants provided informed digital consent at the outset of the questionnaire.

References

  1. 1. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165-73. DOI:10.1038/s41431-019-0508-0
  2. 2. Karagöz Ö, Tırtır B, Güneş D, et al. Enhancing rare disease awareness and education among medical professionals and students in Türkiye. J Eval Clin Pract. 2025;31:e70242. DOI:10.1111/jep.70242
  3. 3. Ramalle-Gómara E, Domínguez-Garrido E, Gómez-Eguílaz M, et al. Education and information needs for physicians about rare diseases in Spain. Orphanet J Rare Dis. 2020;15:18. DOI:10.1186/s13023-019-1285-0
  4. 4. Walkowiak D and Domaradzki J. Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study. Orphanet J Rare Dis. 2021;16:400. DOI:10.1186/s13023-021-02023-9
  5. 5. Benz K, Trapp R, Voss M, et al. Awareness and knowledge of rare diseases in German dentists, dental specialists and oral and maxillofacial surgeons. Medicina (Kaunas). 2022;58:1114. DOI:10.3390/medicina58081114
  6. 6. Vashishta L, Bapat P, Bhattacharya Y, et al. A survey of awareness of diagnosis and treatment of rare diseases among healthcare professionals and researchers in India. J Biosci. 2023;48:37. DOI:10.1007/s12038-023-00363-1
  7. 7. Domaradzki J and Walkowiak D. Knowledge and attitudes of future healthcare professionals toward rare diseases. Front Genet. 2021;12:639610. DOI:10.3389/fgene.2021.639610
  8. 8. Choukair D, Hauck F, Bettendorf M, et al. An integrated clinical pathway for diagnosis, treatment and care of rare diseases. Orphanet J Rare Dis. 2021;16:474. DOI:10.1186/s13023-021-02092-w

Details

Primary Language

English

Subjects

Clinical Sciences (Other)

Journal Section

Research Article

Publication Date

September 17, 2026

Submission Date

April 20, 2026

Acceptance Date

September 9, 2026

Published in Issue

Year 2026 Volume: 17 Number: July, August, September 2026

APA
Sanrı, A., Yazıcıoğlu, B., & Sanrı, E. (2026). Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi, 17(July, August, September 2026). https://doi.org/10.31067/acusaglik.1933942
AMA
1.Sanrı A, Yazıcıoğlu B, Sanrı E. Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians. Acibadem Univ Saglik Bilim Derg. 2026;17(July, August, September 2026). doi:10.31067/acusaglik.1933942
Chicago
Sanrı, Aslıhan, Bahadır Yazıcıoğlu, and Emre Sanrı. 2026. “Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians”. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 17 (July, August, September 2026). https://doi.org/10.31067/acusaglik.1933942.
EndNote
Sanrı A, Yazıcıoğlu B, Sanrı E (September 1, 2026) Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 17 July, August, September 2026
IEEE
[1]A. Sanrı, B. Yazıcıoğlu, and E. Sanrı, “Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians”, Acibadem Univ Saglik Bilim Derg, vol. 17, no. July, August, September 2026, Sept. 2026, doi: 10.31067/acusaglik.1933942.
ISNAD
Sanrı, Aslıhan - Yazıcıoğlu, Bahadır - Sanrı, Emre. “Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians”. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 17/July, August, September 2026 (September 1, 2026). https://doi.org/10.31067/acusaglik.1933942.
JAMA
1.Sanrı A, Yazıcıoğlu B, Sanrı E. Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians. Acibadem Univ Saglik Bilim Derg. 2026;17. doi:10.31067/acusaglik.1933942.
MLA
Sanrı, Aslıhan, et al. “Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians”. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi, vol. 17, no. July, August, September 2026, Sept. 2026, doi:10.31067/acusaglik.1933942.
Vancouver
1.Aslıhan Sanrı, Bahadır Yazıcıoğlu, Emre Sanrı. Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians. Acibadem Univ Saglik Bilim Derg. 2026 Sep. 1;17(July, August, September 2026). doi:10.31067/acusaglik.1933942