Improving Access to Hereditary Testing in Pancreatic Ductal Carcinoma.

IF 5.3 2区 医学 Q1 ONCOLOGY JCO precision oncology Pub Date : 2024-08-01 DOI:10.1200/PO.24.00167
Carol Cremin, Angela C Bedard, Quan Hong, Sze Wing Mung, Jennifer Nuk, Andrew Wong, Husain Akbar, Eugene Cheung, Daniel Renouf, David Schaeffer, Sophie Sun, Kasmintan A Schrader
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Abstract

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% v 25.6%, P = .004), to have earlier-stage disease (P = .012), and to have better Eastern Cooperative Oncology Group performance status than the HCT group (P = .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] v 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.

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提高胰腺导管癌遗传检测的可及性。
目的:约5%-10%的胰腺导管腺癌(PDAC)患者有遗传基础,但基因检测的接受率仍然很低,而且存在差异。本研究比较了转诊至省级癌症中心(不列颠哥伦比亚省癌症中心)的患者可接受的两种基因检测途径:一种是传统的遗传性癌症诊所主动检测(HCT)途径,另一种是新的肿瘤诊所主动检测(OCT)途径: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。对病历进行回顾性审查,以了解患者特征和检测结果:研究对象为397名患者(HCT,n = 279;OCT,n = 118)。与 HCT 患者相比,OCT 患者更有可能是非欧洲人种(41.9% 对 25.6%,P = .004),更有可能罹患早期疾病(P = .012),而且与 HCT 组相比,OCT 患者的东部合作肿瘤学组表现状态更好(P = .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(几率比为 3.74 [95% CI,1.66 至 9.62])。OCT 患者获得结果的中位时间比 HCT 患者短(53 天 [IQR, 44-76] 对 107 天 [IQR, 63.8-158.3])。8.5%的患者(26/306)发现了胰腺癌易感致病基因变异:我们研究中的实际观察结果表明,肿瘤诊所发起的遗传检测比通过遗传性癌症诊所转诊进行的检测更有效、更快捷,而且能覆盖更多不同种族的人群。这对遗传咨询资源有限的公共资助环境具有重要意义。
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4.30%
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363
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