Purpose

In 2019, the National Comprehensive Cancer Network (NCCN) recommended genetic testing for all patients with pancreatic ductal adenocarcinoma (PDAC). To evaluate the status of implementation of these guidelines in a loco-regional setting, we performed a retrospective, observational study among patients with newly diagnosed PDAC who received oncologic care at Northeast Georgia Medical Center in Georgia.

Methods

Chart abstraction of patients with newly diagnosed PDAC from 1 January 2020 to 31 December 2021 was performed to include information on genetic testing recommendation and completion, and time from diagnosis to testing. The deidentified dataset was then analyzed using appropriate descriptive and associative statistical testing.

Results

Of the cohort of 109 patients, 32 (29.4%) completed genetic screening; 16 (14.7%) were screened within 10 days of diagnosis. Among the 77 (70.6%) patients who did not receive genetic screening, 45 (41.3%) were not recommended genetic screening despite treatment intent with standard of care therapy. However, 32 (29.4%) were not recommended genetic screening in conjunction with a desire to pursue palliative care/hospice/or due to terminal illness.

Conclusions

The study highlighted the gap in implementation of NCCN guideline-directed genetic testing in PDAC patients as only a third underwent testing suggesting the need for systematic processes to facilitate testing. The test was more likely to be completed if done early in the course, especially soon after the diagnosis. Research is needed to explore discussing genetic testing for the large proportion of patients who are terminally ill at diagnosis where genetic screening would potentially benefit the family members.

中文翻译：

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评估 NCCN 指南指导的胰腺导管腺癌遗传筛查建议的实施情况

目的

2019年，国家综合癌症网络（NCCN）建议对所有胰腺导管腺癌（PDAC）患者进行基因检测。为了评估这些指南在局部区域的实施情况，我们对在乔治亚州东北佐治亚医学中心接受肿瘤治疗的新诊断 PDAC 患者进行了一项回顾性观察性研究。

方法

对2020年1月1日至2021年12月31日新诊断的PDAC患者进行了图表提取，包括基因检测建议和完成情况以及从诊断到检测的时间信息。然后使用适当的描述性和关联统计测试来分析去识别化的数据集。

结果

在 109 名患者中，32 名（29.4%）完成了基因筛查；16 例 (14.7%) 在诊断后 10 天内接受了筛查。在 77 名 (70.6%) 未接受基因筛查的患者中，有 45 名 (41.3%) 患者尽管意图接受标准护理治疗，但并未建议进行基因筛查。然而，32 名患者 (29.4%) 因希望寻求姑息治疗/临终关怀/或因绝症而未被建议进行基因筛查。

结论

该研究强调了在 PDAC 患者中实施 NCCN 指南指导的基因检测方面的差距，因为只有三分之一的患者接受了检测，这表明需要系统化的流程来促进检测。如果在病程早期进行，尤其是在诊断后不久，测试更有可能完成。需要进行研究来探讨对大部分诊断时患有绝症的患者进行基因检测，其中基因筛查可能会使家庭成员受益。