Breast Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Department of Internal Medicine and Medical Specialties (DiMI), School of Medicine, University of Genova, Genoa, Italy.
J Genet Couns. 2023 Feb;32(1):140-152. doi: 10.1002/jgc4.1630. Epub 2022 Aug 29.
Several models of genetic counseling have been proposed to tackle the increasing volume of individuals requiring access to BRCA testing. Few data are available on patient experience and retention of information with nurse-driven genetic counseling. We evaluated the experience and retention of information in women with an uninformative BRCA test result and who were not considered at high risk due to their personal/family history of cancer who underwent geneticist-supervised nurse-driven genetic counseling and who received their test result by phone. Women who received an uninformative BRCA test result between May 2017 and September 2019 were administered a questionnaire exploring experience with genetic counseling and retention of information provided. Of 366 eligible women, 299 (273 breast cancer patients and 26 women without breast cancer) completed the interview. Overall, 280 women (93.6%) positively valued their experience with genetic counseling and 287 (96.0%) considered it helpful with 57.5% of them feeling reassured for themselves and their family. Information on the clinical implications of the test result was correctly retained and women acted accordingly. Overall, 252 women (87.8%) accurately reported their test result as normal/negative. Only 67 (22.4%) recognized that despite a normal BRCA test result, a low probability of a hereditary syndrome remains. Most women showed a poor ability to estimate cancer risk in BRCA mutation carriers and in the general population. Geneticist-supervised nurse-driven genetic counseling process for women with uninformative BRCA test result is associated with a positive patient experience and an adequate retention of information concerning the management of their personal and familial cancer risk. The design and implementation of nurse-driven genetic counseling models may contribute to efficient and timely access to BRCA genetic testing.
已经提出了几种遗传咨询模式，以解决越来越多需要接受 BRCA 检测的个体的问题。关于护士主导的遗传咨询对患者体验和信息保留的影响的数据很少。我们评估了在接受遗传学家监督的护士主导的遗传咨询且因个人/家族癌症史而被认为不属于高风险但 BRCA 检测结果无意义的女性中，她们的体验和信息保留情况。这些女性在 2017 年 5 月至 2019 年 9 月期间接受了 BRCA 检测，结果无意义，并通过电话收到了检测结果。我们对这些女性进行了一项问卷调查，以了解她们对遗传咨询的体验和对所提供信息的保留情况。在 366 名符合条件的女性中，有 299 名（273 名乳腺癌患者和 26 名非乳腺癌患者）完成了访谈。总的来说，280 名女性（93.6%）对遗传咨询体验给予了积极评价，287 名女性（96.0%）认为遗传咨询有帮助，其中 57.5%的女性对自己和家人感到放心。女性正确保留了有关测试结果的临床意义的信息，并根据这些信息采取了相应的措施。总的来说，252 名女性（87.8%）准确报告了她们的测试结果为正常/阴性。只有 67 名女性（22.4%）认识到，尽管 BRCA 检测结果正常，但遗传性综合征的低概率仍然存在。大多数女性在估计 BRCA 突变携带者和普通人群中的癌症风险方面能力较差。对于 BRCA 检测结果无意义的女性，遗传学家监督的护士主导的遗传咨询过程与积极的患者体验和充分保留有关个人和家族癌症风险管理的信息相关。护士主导的遗传咨询模式的设计和实施可能有助于高效、及时地获得 BRCA 基因检测。
