ORIGINAL RESEARCH article

Front. Oral Health

Sec. Oral Health Promotion

Volume 6 - 2025 | doi: 10.3389/froh.2025.1573355

Knowledge and Attitudes about Rare Genetic Diseases among Practitioners of Oral Medicine/Pathology in Brazil: a cross-sectional study

Provisionally accepted
Samuel TrezenaSamuel Trezena1*Daniella Reis Barbosa MartelliDaniella Reis Barbosa Martelli1Paulo BonanPaulo Bonan2Edgard GranerEdgard Graner3Livia Maria Ferreira SobrinhoLivia Maria Ferreira Sobrinho4Faizan AlawiFaizan Alawi5Ricardo D. ColettaRicardo D. Coletta3Hercílio Martelli JúniorHercílio Martelli Júnior1,3
  • 1State University of Montes Claros, Montes Claros, Brazil
  • 2Federal University of Paraíba, João Pessoa, Paraíba, Brazil
  • 3State University of Campinas, Campinas, São Paulo, Brazil
  • 4Clinical Research Center, Clinical Hospital of Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil
  • 5University of Pennsylvania, Philadelphia, Pennsylvania, United States

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This study aimed to analyze the knowledge and attitudes of Brazilian Oral Medicine and Pathology (OM/OP) specialists about genetic diseases. A cross-sectional and descriptive study was conducted with Brazilian OM/OP specialists, using a pre-structured online formulary. Statistical analyses were performed using Statistical Package for the Social Sciences (SPSS ® ). The questionnaire was sent to 273 specialists, members of the Brazilian Society of Stomatology and Oral Pathology (SOBEP). A total of 58 (21.2%) OM/OP specialists responded to the questionnaire. Most of the participants (67.2%) have declared attending theoretical courses on diagnosing and genetic testing for genetic diseases. Furthermore, 79.3% of participants reported that there are barriers to integration between the fields of Medical Genetics and OM/OP. Longer time working as a PhD was associated with knowledge of lesions predictive of genetic diseases (P<0.05). Dental abnormalities and the presence of tumors, along with Gorlin-Goltz (nevoid basal cell carcinoma syndrome) and Gardner syndromes and neurofibromatosis, were the most frequently reported conditions and recalled by the responders of the survey. There is limited integration between Medical Genetics and OM/OP. However, there is considerable knowledge about oral manifestations as indicators of genetic diseases among OM/OP experts.

Keywords: Genetic diseases, Inborn, Rare Diseases, syndrome, Tooth Abnormalities, Oral Medicine, oral pathology

Received: 08 Feb 2025; Accepted: 18 Jun 2025.

Copyright: © 2025 Trezena, Martelli, Bonan, Graner, Sobrinho, Alawi, Coletta and Martelli Júnior. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Samuel Trezena, State University of Montes Claros, Montes Claros, Brazil

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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