提高胰腺导管腺癌遗传检测的可及性。
Improving Access to Hereditary Testing in Pancreatic Ductal Carcinoma.
机构信息
Hereditary Cancer Program, BC Cancer, Vancouver, BC, Canada.
Pancreas Centre BC, Vancouver, BC, Canada.
出版信息
JCO Precis Oncol. 2024 Aug;8:e2400167. doi: 10.1200/PO.24.00167.
PURPOSE
Approximately 5%-10% of patients with pancreatic ductal adenocarcinoma (PDAC) have an inherited basis, yet uptake of genetic testing remains low and subject to disparities. This study compared two genetic testing pathways available to patients referred to a provincial cancer center, BC Cancer: a traditional hereditary cancer clinic-initiated testing (HCT) pathway and a new oncology clinic-initiated testing (OCT) pathway.
METHODS
Study subjects were patients with confirmed PDAC referred for genetic testing through the HCT or OCT pathway between June 1, 2020, and February 1, 2022. Charts were retrospectively reviewed for patient characteristics and testing outcomes.
RESULTS
The study population was 397 patients (HCT, n = 279 and OCT, n = 118). OCT patients were more likely to have non-European ethnicity compared with HCT patients (41.9% 25.6%, = .004), to have earlier-stage disease ( = .012), and to have better Eastern Cooperative Oncology Group performance status than the HCT group ( = .001). A total of 306 patients completed testing (77%). OCT patients had higher test completion rates than HCT patients (odds ratio, 3.74 [95% CI, 1.66 to 9.62]). Median time for results was shorter in OCT than in HCT (53 days [IQR, 44-76] 107 days [IQR, 63.8-158.3]). Pancreatic cancer susceptibility pathogenic gene variants were identified in 8.5% (26/306).
CONCLUSION
The real-world observations in our study show that oncology clinic-initiated hereditary testing is more effective and faster than testing through hereditary cancer clinic referrals and reaches a more ethnically diverse population. This has important implications for publicly funded environments with limited resources for genetic counseling.
目的
约 5%-10%的胰腺导管腺癌 (PDAC) 患者具有遗传基础,但基因检测的接受率仍然较低,且存在差异。本研究比较了两种可供患者选择的基因检测途径,一种是通过省级癌症中心的传统遗传性癌症诊所启动的检测 (HCT) 途径,另一种是新的肿瘤诊所启动的检测 (OCT) 途径。
方法
研究对象为 2020 年 6 月 1 日至 2022 年 2 月 1 日期间通过 HCT 或 OCT 途径转诊进行基因检测的确诊 PDAC 患者。对病历进行回顾性分析,以评估患者特征和检测结果。
结果
研究人群为 397 名患者(HCT,n=279;OCT,n=118)。与 HCT 患者相比,OCT 患者更有可能具有非欧洲血统(41.9% vs. 25.6%, =.004),疾病分期更早( =.012),且 Eastern Cooperative Oncology Group 表现状态优于 HCT 组( =.001)。共有 306 名患者完成了检测(77%)。OCT 患者的检测完成率高于 HCT 患者(优势比,3.74 [95%置信区间,1.66 至 9.62])。OCT 组的中位结果时间短于 HCT 组(53 天 [IQR,44-76] vs. 107 天 [IQR,63.8-158.3])。在 306 名完成检测的患者中,鉴定出了 8.5%(26/306)的胰腺癌症易感性致病性基因变异。
结论
我们的研究中的实际观察结果表明,肿瘤诊所启动的遗传性检测比通过遗传性癌症诊所转诊更有效和更快,并且能够覆盖到更多具有不同种族背景的人群。这对于资源有限的公共资助环境具有重要意义,因为这些环境需要遗传咨询服务。