Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer
Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer
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DOI：
10.1200/jco.2016.71.6480
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发表时间：
2017-07-10
影响因子：
45.3
通讯作者：
Katz, Steven J.
中科院分区：
文献类型：
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作者：
Kurian, Allison W.;Li, Yun;Katz, Steven J.
目的乳腺癌风险的遗传学测试正在迅速发展，越来越多的多基因面板的使用可能会产生不确定的结果。然而，人们对这种检测的背景及其对治疗的影响知之甚少。方法对2014-2015年间由两个SEER注册机构(佐治亚州和洛杉矶)确认的乳腺癌患者进行了基于人群的样本调查(N=3,672；应答率为68%)。将答复与SEER数据合并。根据基因检测指南确定病原性突变携带者检测前风险较高的患者亚组。对患者的主治医生进行了关于基因测试和结果管理的调查。我们检查了遗传咨询和检测的模式和相关性，以及结果对双侧乳腺切除术(BLM)使用的影响。结果666名患者报告了基因检测。尽管三分之二的患者在手术治疗前进行了测试，但没有私人保险的患者更多地经历了延误。大约一半的患者(57%在试验前风险较高，42%在平均风险)与遗传咨询师讨论结果。BRCA1/2或其他基因的致病突变患者的BLM发生率最高(高风险，80%；平均风险，85%)；然而，BLM在具有不确定意义的基因变异的患者中也很常见(VUS；高风险，43%；平均风险，51%)。外科医生讨论检测的信心随着乳腺癌患者数量的增加而增加，但许多外科医生(高容量，24%；低容量，50%)管理BRCA1/2 VUS患者与BRCA1/2致病突变患者相同。结论许多乳腺癌患者在接受检测时从未见过遗传咨询师。中等风险的VUS患者中有一半接受了BLM，这表明对一些外科医生分享的结果理解有限。这些发现强调了在基因检测的个性化交流中应对挑战的必要性。
PurposeGenetic 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.MethodsA 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.ResultsSix 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.ConclusionMany 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.