Prognosis is generally poor for patients with pancreatic ductal adenocarcinoma. However, patients with germline BRCA1 or BRCA2 mutations (gBRCAm) may benefit from first-line platinum-based chemotherapy and maintenance therapy with the poly(adenosine diphosphate-ribose) polymerase inhibitor olaparib following at least 16 weeks of first-line platinum-based chemotherapy without disease progression. Germline breast cancer gene (BRCA) testing is therefore important to ensure that patients receive the most effective treatment. In addition, testing for other DNA damage response gene mutations beyond gBRCAm may also guide treatment decisions. However, clinical pathways for genetic testing are often suboptimal, leading to delays in treatment initiation or missed opportunities for personalized therapy. Barriers to testing include low rates of referral and uptake, delays to referral and slow result turnaround times, cost, and biopsy and assay limitations if somatic testing is performed, leading to the requirement for subsequent dedicated germline testing. Low rates of referral may result from lack of awareness among physicians of the clinical value of testing, coupled with low confidence in interpreting test results and poor availability of genetic counseling services. Among patients, barriers to uptake may include similar lack of awareness of the clinical value of testing, anxiety regarding the implications of test results, lack of insurance coverage, fear of negative insurance implications, and socioeconomic factors. Potential solutions include innovative approaches to testing pathways, including 'mainstreaming' of testing in which BRCA tests are routinely arranged by the treating oncologist, with the involvement of genetic counselors if a patient is found to have a gBRCAm. More recently, the utility of multigene panel analyses has also been explored. Access to genetic counseling may also be improved through initiatives such as having a genetic counseling appointment for all new patient visits and telemedicine approaches, including the use of telephone consultations or DVD-assisted counseling. Educational programs will also be beneficial, and cost effectiveness is likely to improve as the number of targeted treatments increases and when the earlier detection of tumors in family members following cascade testing is considered.

中文翻译：

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胰腺癌种系 BRCA 检测：提高认识、时机、周转和吸收。

胰腺导管腺癌患者的预后通常较差。然而，具有种系 BRCA1 或 BRCA2 突变 (gBRCAm) 的患者可能会受益于一线铂类化疗和至少 16 周的一线铂类化疗后使用聚（腺苷二磷酸核糖）聚合酶抑制剂奥拉帕尼的维持治疗无疾病进展。因此，生殖系乳腺癌基因 (BRCA) 检测对于确保患者接受最有效的治疗非常重要。此外，检测 gBRCAm 以外的其他 DNA 损伤反应基因突变也可能指导治疗决策。然而，基因检测的临床途径通常不是最理想的，导致治疗开始延迟或错过个性化治疗的机会。检测的障碍包括转诊率和采用率低、转诊延迟和结果周转时间慢、成本以及进行体细胞检测时活检和化验的限制，从而导致需要进行后续专门的种系检测。转诊率低可能是由于医生对检测的临床价值缺乏认识，加上对解释检测结果的信心不足以及遗传咨询服务的可用性较差。在患者中，接受的障碍可能包括类似地缺乏对检测临床价值的认识、对检测结果影响的焦虑、缺乏保险覆盖、担心负面保险影响以及社会经济因素。潜在的解决方案包括测试途径的创新方法，包括将测试“主流化”，其中BRCA测试由治疗肿瘤学家例行安排，如果发现患者患有gBRCAm，则遗传咨询师会参与其中。最近，还探索了多基因面板分析的实用性。还可以通过诸如为所有新患者就诊进行遗传咨询预约和远程医疗方法（包括使用电话咨询或 DVD 辅助咨询）等举措来改善获得遗传咨询的机会。教育计划也将是有益的，随着靶向治疗数量的增加以及考虑在级联测试后尽早发现家庭成员的肿瘤，成本效益可能会提高。