Division of Hematology and Oncology, University of California, San Francisco, San Francisco, CA, 94143, USA.
Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, 550 16th Street, San Francisco, CA, 94143, USA.
Fam Cancer. 2019 Apr;18(2):241-251. doi: 10.1007/s10689-018-0106-2.
Hereditary predisposition is estimated to account for 10% of all pancreatic cancer cases. However, referral patterns and clinical workflow for germline testing in this disease differ significantly by institution, and many at-risk patients may not undergo appropriate counseling and testing. We undertook an analysis of patients diagnosed with pancreatic cancer (PDAC) who were referred to the Clinical Genetics program of a high-volume academic center over a 3-year period to assess referral frequency, evaluate the yield of germline testing in this selected patient cohort, and elucidate the reasons individuals did not undergo recommended germline testing. Medical records of patients with PDAC referred for genetic counseling between January 2015 and October 2017 were reviewed for demographic, medical/family history, and disease-specific data. If testing did not occur, reasons were documented. Genetic test results were categorized as negative, variants of unknown significance, or established pathogenic mutations. Descriptive statistics included means with standard deviations; associations were analyzed with t test and Fisher's exact test. 32% (137 of 432) of PDAC patients were referred for genetic counseling, but only 64% attended their appointment and 60% ultimately underwent germline testing. Common reasons for attrition included worsening disease severity, lack of patient follow-up, insurance concerns, and logistic/travel challenges. Pathogenic germline mutations were detected in 20% (16 of 82) of patients tested, distributed across races/ethnicities, and significantly associated with younger age and positive family history of breast cancer. PDAC patients frequently do not undergo genetic counseling/germline testing despite appropriate referrals, highlighting a need to develop streamlined processes to engage more patients in testing, especially those with high-risk features.
遗传性易感性估计占所有胰腺癌病例的 10%。然而，在这种疾病中，种系检测的转诊模式和临床工作流程因机构而异，许多高危患者可能未接受适当的咨询和检测。我们对在 3 年内被转诊至一家高容量学术中心临床遗传学项目的胰腺癌 (PDAC) 患者进行了分析，以评估转诊频率，评估该选定患者队列中种系检测的产量，并阐明个体未接受推荐种系检测的原因。回顾了 2015 年 1 月至 2017 年 10 月期间因遗传咨询而被转诊的 PDAC 患者的病历，以获取人口统计学、医疗/家族史和疾病特异性数据。如果未进行检测，则记录原因。将遗传检测结果分为阴性、意义不明的变异体或已建立的致病性突变。描述性统计包括平均值和标准差；使用 t 检验和 Fisher 精确检验分析关联。432 名 PDAC 患者中有 32%（137 名）被转诊接受遗传咨询，但只有 64%的患者预约，60%的患者最终接受了种系检测。流失的常见原因包括疾病严重程度恶化、患者随访不足、保险问题以及物流/旅行挑战。在接受检测的 82 名患者中，有 20%（16 名）检测出致病性种系突变，分布在不同种族/民族中，与年龄较小和乳腺癌阳性家族史显著相关。尽管有适当的转诊，但 PDAC 患者经常未接受遗传咨询/种系检测，这突显了需要开发简化的流程，以使更多患者接受检测，尤其是那些具有高危特征的患者。
