Dick Julia, Aue Viktoria, Wesselmann Simone, Brédart Anne, Dolbeault Sylvie, Devilee Peter, Stoppa-Lyonnet Dominique, Schmutzler Rita K, Rhiem Kerstin
Center for Hereditary Breast and Ovarian Cancer and Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
German Cancer Society (DKG), Berlin, Germany.
Breast Care (Basel). 2021 Aug;16(4):389-395. doi: 10.1159/000511136. Epub 2020 Nov 4.
In recent years, germline testing of women with a risk of developing breast and ovarian cancer has increased rapidly. This is due to lower costs for new high-throughput sequencing technologies and the manifold preventive and therapeutic options for germline mutation carriers. The growing demand for genetic counseling meets a shortfall of counselors and illustrates the need to involve the treating clinicians in the genetic testing process. This survey was undertaken to assess their state of knowledge and training needs in the field of genetic counseling and testing.
A cross-sectional survey within the European Bridges Study (Breast Cancer Risk after Diagnostic Gene Sequencing) was conducted among physician members ( = 111) of the German Cancer Society who were primarily gynecologists. It was designed to examine their experience in genetic counseling and testing.
Overall, the study revealed a need for training in risk communication and clinical recommendations for persons at risk. One-third of respondents communicated only relative disease risks (31.5%) instead of absolute disease risks in manageable time spans. Moreover, almost one-third of the respondents (31.2%) communicated bilateral and contralateral risk-reducing mastectomy as an option for healthy women and unilateral-diseased breast cancer patients without mutations in high-risk genes (e.g. or . Most respondents expressed training needs in the field of risk assessment models, the clinical interpretation of genetic test results, and the decision-making process.
The survey demonstrates a gap of genetic and risk literacy in a relevant proportion of physicians and the need for appropriate training concepts.
近年来,对有患乳腺癌和卵巢癌风险的女性进行种系检测的数量迅速增加。这归因于新型高通量测序技术成本的降低以及种系突变携带者多样的预防和治疗选择。对遗传咨询的需求不断增长,但咨询师数量不足,这表明需要让临床治疗医生参与到基因检测过程中。本次调查旨在评估他们在遗传咨询和检测领域的知识水平及培训需求。
在欧洲桥梁研究(诊断性基因测序后的乳腺癌风险)中,对德国癌症协会的医生成员(n = 111,主要为妇科医生)进行了横断面调查。该调查旨在考察他们在遗传咨询和检测方面的经验。
总体而言,研究表明在对风险人群进行风险沟通和临床建议方面需要培训。三分之一的受访者在可管理的时间范围内仅传达相对疾病风险(31.5%)而非绝对疾病风险。此外,近三分之一的受访者(31.2%)将双侧和对侧预防性乳房切除术作为健康女性以及高危基因(如BRCA1或BRCA2)无突变的单侧患病乳腺癌患者的一种选择进行沟通。大多数受访者表示在风险评估模型、基因检测结果的临床解读以及决策过程等领域有培训需求。
该调查表明相当一部分医生在基因和风险素养方面存在差距,并且需要适当的培训理念。