Lasta João Lucas, Groto Anderson Dillmann, Brandalize Ana Paula Carneiro
Faculty of Medicine, Federal University of Paraná, Toledo Campus, Toledo, Paraná, Brazil.
Prev Med Rep. 2023 Aug 2;35:102356. doi: 10.1016/j.pmedr.2023.102356. eCollection 2023 Oct.
Genetic testing has become increasingly used in medical practice to enable genetic cancer risk assessment. In Hereditary Breast and Ovarian Cancer syndrome (HBOC), it can be used to screen pathogenic germline variants. The access to early diagnosis, from the request until the proper interpretation of genetic tests depends on medical knowledge. The aim of this study was to evaluate the knowledge of family physicians, oncologists, geneticists and gynecologists regarding genetic testing for patients with suspected HBOC in Brazil. A cross-sectional survey of physicians was performed using a self-administered questionnaire. One hundred and ninety-two physicians answered the questionnaire (23 were geneticists, 38 gynecologists, 39 family physicians, and 92 oncologists). Only 15.4% of family physicians and 26% of gynecologists feel prepared to order genetic testing for patients with personal and/or family history of breast and/or ovarian cancer. Even though 87% of the oncologists have genetic testing available in their clinical practice, only 51.1% consider they have sufficient knowledge to manage patients after detecting a pathogenic germline variant and 17.4% do not feel comfortable interpreting them. Most oncologists and geneticists are very knowledgeable about recommendations for genetic testing order and management of HBOC patients. On the other hand, gynecologists and family physicians order genetic testing less frequently (28.9% and 7.7%, respectively) and have difficulties interpreting (26.3% and 2.3%, respectively) and managing these patients. These observations raise important issues regarding the implementation of genetic testing in Brazil, including the development of training programs for physicians from different specialties.
基因检测在医学实践中越来越多地被用于进行遗传性癌症风险评估。在遗传性乳腺癌和卵巢癌综合征（HBOC）中，它可用于筛查致病性种系变异。从提出检测请求到对基因检测进行正确解读，能否实现早期诊断取决于医学知识。本研究的目的是评估巴西的家庭医生、肿瘤学家、遗传学家和妇科医生对疑似HBOC患者基因检测的了解程度。通过自行填写问卷对医生进行了横断面调查。192名医生回答了问卷（23名是遗传学家，38名是妇科医生，39名是家庭医生，92名是肿瘤学家）。只有15.4%的家庭医生和26%的妇科医生认为自己有能力为有个人和/或家族乳腺癌和/或卵巢癌病史的患者开具基因检测。尽管87%的肿瘤学家在临床实践中可以进行基因检测，但只有51.1%的人认为他们有足够的知识在检测到致病性种系变异后管理患者，17.4%的人对解读这些结果感到不自在。大多数肿瘤学家和遗传学家对HBOC患者基因检测的开具和管理建议非常了解。另一方面，妇科医生和家庭医生较少开具基因检测（分别为28.9%和7.7%），并且在解读（分别为26.3%和2.3%）和管理这些患者方面存在困难。这些观察结果引发了巴西基因检测实施方面的重要问题，包括为不同专业的医生制定培训计划。
