Hafertepen Laura, Pastorino Alyssa, Morman Nichole, Snow Jennifer, Halaharvi Deepa, Byrne Lindsey, Cripe Mark
OhioHealth Breast and Cancer Surgeons, Grant Medical Center, Columbus, OH, USA.
OhioHealth Breast and Cancer Surgeons, Grant Medical Center, Columbus, OH, USA.
Am J Surg. 2017 Jul;214(1):105-110. doi: 10.1016/j.amjsurg.2016.08.012. Epub 2016 Sep 9.
Genetic testing results influence treatment recommendations in newly diagnosed breast cancer patients. However, at-risk patients do not uniformly undergo genetic testing. The goal of this study was to identify barriers to genetic testing in newly diagnosed breast cancer patients.
A prospective database of newly diagnosed breast cancer patients meeting specific criteria over an 18-month period was created and retrospectively reviewed.
A total of 532 patients were identified at risk for genetic mutation. Of these 313 (59%) patients completed a genetic counseling appointment and 292 (55%) underwent genetic testing. One hundred seven (24%) were never referred to genetic counselors and 89 (17%) were referred but did not complete an appointment. Patients referred to genetics were younger than the nonreferred patients (50.9 vs 60.6 years, P < .001). The 89 women referred to genetics who did not complete an appointment were surveyed and had varied reasons for not completing an appointment.
The largest barrier to genetic testing was lack of physician referral; therefore, provider education must be improved. Appointments should be convenient and providers should proactively discuss the significant implications of testing results.
基因检测结果会影响新诊断乳腺癌患者的治疗建议。然而，高危患者并非都进行基因检测。本研究的目的是确定新诊断乳腺癌患者进行基因检测的障碍。
建立了一个前瞻性数据库，纳入18个月内符合特定标准的新诊断乳腺癌患者，并进行回顾性分析。
共确定532例有基因突变风险的患者。其中313例（59%）患者完成了基因咨询预约，292例（55%）接受了基因检测。107例（24%）从未被转介给基因咨询师，89例（17%）被转介但未完成预约。被转介到基因检测的患者比未被转介的患者年轻（50.9岁对60.6岁，P <.001）。对89例被转介到基因检测但未完成预约的女性进行了调查，她们未完成预约的原因各不相同。
基因检测的最大障碍是缺乏医生转介；因此，必须加强对医疗服务提供者的教育。预约应方便，医疗服务提供者应主动讨论检测结果的重大影响。
