Purpose

To address demands for timely germline information to guide treatments, we evaluated experiences of patients with ovarian, pancreatic, and prostate cancer with a mainstreaming genetic testing model wherein multigene panel testing was ordered by oncologists with standardized pretest patient education, and genetic counselors delivered results and post-test genetic counseling via telephone.

Methods

Among 1,203 eligible patients, we conducted a prospective single-arm study to examine patient uptake and acceptability (via self-report surveys at baseline and three weeks and three months following result return) of this mainstreaming model.

Results

Only 10% of eligible patients declined participation. Among 1,054 tested participants, 10% had pathogenic variants (PV), 16% had variants of uncertain significance (VUS), and 74% had no variant identified (NV). Participants reported high initial acceptability, including high satisfaction with their testing decision. Variability over time in several outcomes existed for participants with PV or NV: those with NV experienced a temporary increase in depression (p_Time < 0.001; p_Time2 < 0.001), and those with PV experienced a small increase in genetic testing distress (p = 0.03). Findings suggested that result type, sex, and cancer type were also associated with outcomes including clinical depression and uncertainty.

Conclusion

This mainstreaming model may offer a feasible approach for extending access to germline genetic information.

中文翻译：

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在卵巢癌、胰腺癌和前列腺癌患者中采用和接受遗传性癌症多基因组检测主流模型

目的

为了满足及时提供生殖系信息以指导治疗的需求，我们使用主流基因检测模型评估了卵巢癌、胰腺癌和前列腺癌患者的经验，其中多基因面板检测由具有标准化预检测患者教育的肿瘤学家订购，遗传咨询师提供结果和通过电话进行测试后遗传咨询。

方法

在 1,203 名符合条件的患者中，我们进行了一项前瞻性单臂研究，以检查患者对该主流化模型的接受度和可接受性（通过基线和结果返回后三周零三个月的自我报告调查）。

结果

只有 10% 符合条件的患者拒绝参与。在 1,054 名测试参与者中，10% 有致病变异 (PV)，16% 有不确定意义的变异 (VUS)，74% 没有发现变异 (NV)。参与者报告了很高的初始可接受性，包括对他们的测试决定的高度满意。患有 PV 或 NV 的参与者在几个结果中存在随时间的变异性：患有 NV 的人抑郁症暂时增加（p_时间 < 0.001；p_{时间 2}  < 0.001），而患有 PV 的人经历基因检测压力的小幅增加（p  = 0.03)。研究结果表明，结果类型、性别和癌症类型也与包括临床抑郁和不确定性在内的结果相关。

结论

这种主流化模型可能为扩大生殖系遗传信息的获取提供一种可行的方法。