Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna, Austria.
Medical Oncology Department, Hospital Vall d'Hebron, Vall d'Hebron, Institute of Oncology, Universitat Autònoma de Barcelona, Barcelona, Spain.
Eur J Cancer. 2019 Jan;106:54-60. doi: 10.1016/j.ejca.2018.10.007. Epub 2018 Nov 22.
An international panel of experts representing 17 European countries and Israel convened to discuss current needs and future developments in BRCA testing and counselling and to issue consensus recommendations. The experts agreed that, with the increasing availability of high-throughput testing platforms and the registration of poly-ADP-ribose-polymerase inhibitors, the need for genetic counselling and testing will rapidly increase in the near future. Consequently, the already existing shortage of genetic counsellors is expected to worsen and to compromise the quality of care particularly in individuals and families with suspected or proven hereditary breast or ovarian cancer. Increasing educational efforts within the breast cancer caregiver community may alleviate this limitation by enabling all involved specialities to perform genetic counselling. In the therapeutic setting, for patients with a clinical suspicion of genetic susceptibility and if the results may have an immediate impact on the therapeutic strategy, the majority voted that BRCA1/2 testing should be performed after histological diagnosis of breast cancer, regardless of oestrogen receptor and human epidermal growth factor receptor 2 (HER2) status. Experts also agreed that, in the predictive and therapeutic setting, genetic testing should be limited to individuals with a personal or family history suggestive of a BRCA1/2 pathogenic variant and should also include high-risk actionable genes beyond BRCA1/2. Of high-risk actionable genes, all pathological variants (i.e. class IV and V) should be reported; class III variants of unknown significance, should be reported provided that the current lack of clinical utility of the variant is expressly stated. Genetic counselling should always address the possibility that already tested individuals might be re-contacted in case new information on a particular variant results in a re-classification.
一个代表 17 个欧洲国家和以色列的国际专家小组召开会议，讨论 BRCA 检测和咨询的当前需求和未来发展，并发布共识建议。专家们一致认为，随着高通量检测平台的日益普及以及聚 ADP-核糖聚合酶抑制剂的注册，遗传咨询和检测的需求将在不久的将来迅速增加。因此，现有的遗传咨询师短缺预计将恶化，并影响到疑似或确诊遗传性乳腺癌或卵巢癌个体和家庭的护理质量。在乳腺癌护理人员群体中增加教育力度，可能会通过使所有相关专业人员都能够进行遗传咨询来缓解这一限制。在治疗环境中，如果患者有遗传易感性的临床怀疑，并且结果可能对治疗策略有直接影响，大多数专家投票认为 BRCA1/2 检测应在乳腺癌的组织学诊断后进行，而与雌激素受体和人表皮生长因子受体 2（HER2）状态无关。专家还一致认为，在预测和治疗环境中，遗传检测应仅限于个人或家族史提示 BRCA1/2 致病性变异的个体，并应包括 BRCA1/2 以外的高风险可操作基因。在高风险可操作基因中，应报告所有病理性变异（即 IV 类和 V 类）；应报告具有未知临床意义的 III 类变异，前提是明确说明该变异目前缺乏临床实用性。遗传咨询应始终考虑到已经接受测试的个体可能会重新联系的可能性，如果特定变异的新信息导致重新分类。
