Division of Medical Oncology and Haematology, Bras Family Drug Development Program, Princess Margaret Cancer Centre, Toronto, Ontario, Canada.
Kliniken-Essen-Mitte, AGO, Essen, Germany.
Gynecol Oncol. 2016 Jan;140(1):90-4. doi: 10.1016/j.ygyno.2015.10.010. Epub 2015 Oct 22.
Given the implications for clinical care and prevention in identifying a BRCA1/2 mutation, the objective of this study was to determine current BRCA1/2 testing practices in ovarian cancer and to identify future directions.
Two parallel complementary web-based surveys were sent by email to representatives of Gynecologic Cancer InterGroup (GCIG) and to referral centers in countries with and without GCIG membership. Questions posed addressed indications of BRCA1/2 testing for ovarian cancer; the implication of genetic counseling; and prevention strategies employed.
Among the GCIG, 22 collaborative groups from 19 countries answered the survey. For the complementary survey, 22 referral centers replied. Findings show criteria to offer germline BRCA1/2 testing are mixed; 55% of GCIG members based testing decisions on histology and, among all respondents the main testing criterion remains family history. Typically, genetic counseling is scheduled prior to the genetic testing; however, if negative, results may not be communicated by the genetic counselor. Time between testing and communicating results varies widely between the groups. Lastly, recommendations to relatives regarding risk reduction surgery are inconsistent.
Our study highlights the need for collaborative efforts to devise international guidelines around BRCA1/2 testing in ovarian cancer to ensure consistent BRCA1/2 screening practices are adopted. Clinical practice is evolving rapidly and as BRCA1/2 testing is expected to become more widespread, new approaches are required. Coordinating BRCA1/2 testing practices is crucial in terms of care for the patient diagnosed with ovarian cancer but also towards cancer prevention for affected family members.
鉴于在识别 BRCA1/2 突变时对临床护理和预防的影响，本研究旨在确定卵巢癌中当前 BRCA1/2 检测实践，并确定未来的方向。
通过电子邮件向妇科癌症协作组（GCIG）的代表和有或没有 GCIG 成员的国家的转诊中心发送了两份并行的基于网络的调查问卷。提出的问题涉及 BRCA1/2 检测用于卵巢癌的指征；遗传咨询的影响；以及所采用的预防策略。
在 GCIG 中，来自 19 个国家的 22 个协作组回答了调查。对于补充调查，22 个转诊中心做出了回应。调查结果显示，提供种系 BRCA1/2 检测的标准参差不齐；55%的 GCIG 成员根据组织学做出检测决定，而在所有受访者中，主要的检测标准仍然是家族史。通常，遗传咨询在遗传检测之前安排；但是，如果结果为阴性，遗传咨询师可能不会传达结果。检测和传达结果之间的时间在不同的小组之间差异很大。最后，关于减少风险手术的亲属建议不一致。
我们的研究强调需要协作努力制定围绕卵巢癌中 BRCA1/2 检测的国际指南，以确保采用一致的 BRCA1/2 筛查实践。临床实践正在迅速发展，随着 BRCA1/2 检测的普及，需要新的方法。协调 BRCA1/2 检测实践对于诊断为卵巢癌的患者的护理至关重要，但对于受影响的家庭成员的癌症预防也至关重要。
