Kurian Allison W, Li Yun, Hamilton Ann S, Ward Kevin C, Hawley Sarah T, Morrow Monica, McLeod M Chandler, Jagsi Reshma, Katz Steven J
Allison W. Kurian, Stanford University, Stanford; Ann S. Hamilton, Keck School of Medicine, University of Southern California, Los Angeles, CA; Yun Li, M. Chandler McLeod, and Steven J. Katz, University of Michigan, School of Public Health; Sarah T. Hawley, University of Michigan, Veterans Administration Center for Clinical Management Research, Ann Arbor Veterans Affairs Health Care System; Reshma Jagsi, University of Michigan, Center for Bioethics and Social Science in Medicine, Ann Arbor, MI; Kevin C. Ward, Emory University, Rollins School of Public Health, Atlanta, GA; and Monica Morrow, Memorial Sloan Kettering Cancer Center, New York, NY.
J Clin Oncol. 2017 Jul 10;35(20):2232-2239. doi: 10.1200/JCO.2016.71.6480. Epub 2017 Apr 12.
Purpose Genetic testing for breast cancer risk is evolving rapidly, with growing use of multiple-gene panels that can yield uncertain results. However, little is known about the context of such testing or its impact on treatment. Methods A population-based sample of patients with breast cancer diagnosed in 2014 to 2015 and identified by two SEER registries (Georgia and Los Angeles) were surveyed about genetic testing experiences (N = 3,672; response rate, 68%). Responses were merged with SEER data. A patient subgroup at higher pretest risk of pathogenic mutation carriage was defined according to genetic testing guidelines. Patients' attending surgeons were surveyed about genetic testing and results management. We examined patterns and correlates of genetic counseling and testing and the impact of results on bilateral mastectomy (BLM) use. Results Six hundred sixty-six patients reported genetic testing. Although two thirds of patients were tested before surgical treatment, patients without private insurance more often experienced delays. Approximately half of patients (57% at higher pretest risk, 42% at average risk) discussed results with a genetic counselor. Patients with pathogenic mutations in BRCA1/2 or another gene had the highest rates of BLM (higher risk, 80%; average risk, 85%); however, BLM was also common among patients with genetic variants of uncertain significance (VUS; higher risk, 43%; average risk, 51%). Surgeons' confidence in discussing testing increased with volume of patients with breast cancer, but many surgeons (higher volume, 24%; lower volume, 50%) managed patients with BRCA1/2 VUS the same as patients with BRCA1/2 pathogenic mutations. Conclusion Many patients with breast cancer are tested without ever seeing a genetic counselor. Half of average-risk patients with VUS undergo BLM, suggesting a limited understanding of results that some surgeons share. These findings emphasize the need to address challenges in personalized communication about genetic testing.
目的 乳腺癌风险的基因检测发展迅速，多基因检测板的使用日益增多，其结果可能具有不确定性。然而，对于此类检测的背景及其对治疗的影响知之甚少。方法 对2014年至2015年由两个监测、流行病学和最终结果（SEER）登记处（佐治亚州和洛杉矶）确诊的乳腺癌患者进行基于人群的抽样调查，了解其基因检测经历（N = 3672；回复率68%）。将回复与SEER数据合并。根据基因检测指南定义了一个术前携带致病突变风险较高的患者亚组。对患者的主治外科医生进行基因检测和结果管理方面的调查。我们研究了遗传咨询和检测的模式及相关因素，以及检测结果对双侧乳房切除术（BLM）使用的影响。结果 666名患者报告进行了基因检测。虽然三分之二的患者在手术治疗前接受了检测，但没有私人保险的患者更常出现检测延迟。大约一半的患者（术前风险较高者为57%，平均风险者为42%）与遗传咨询师讨论了检测结果。BRCA1/2或其他基因存在致病突变的患者进行BLM的比例最高（高风险者为80%；平均风险者为85%）；然而，意义未明的基因变异（VUS）患者中进行BLM的情况也很常见（高风险者为43%；平均风险者为51%）。外科医生对讨论检测的信心随着乳腺癌患者数量的增加而增强，但许多外科医生（患者数量较多者为24%；患者数量较少者为50%）对携带BRCA1/2 VUS的患者与携带BRCA1/2致病突变的患者的处理方式相同。结论 许多乳腺癌患者在从未见过遗传咨询师的情况下接受了检测。一半的VUS平均风险患者接受了BLM，这表明一些外科医生对检测结果的理解有限。这些发现强调了应对基因检测个性化沟通挑战的必要性。
