# Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study

## TL;DR

This study explores the knowledge and attitudes of Brazilian oral medicine specialists regarding rare genetic diseases and their integration with medical genetics.

## Contribution

The study provides insights into the current understanding and perceived barriers among Brazilian OM/OP specialists regarding genetic diseases.

## Key findings

- Most participants reported attending theoretical courses on diagnosing and genetic testing for genetic diseases.
- A significant percentage of participants identified barriers to integration between Medical Genetics and OM/OP.
- Dental abnormalities and specific syndromes like Gorlin-Goltz and Gardner were frequently recalled by participants.

## Abstract

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.