Dana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Brigham and Women's Hospital, Boston, Massachusetts.
Dana-Farber Cancer Institute, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts.
Gastroenterology. 2024 May;166(5):872-885.e2. doi: 10.1053/j.gastro.2024.01.042. Epub 2024 Feb 5.
BACKGROUND & AIMS: Genetic testing uptake for cancer susceptibility in family members of patients with cancer is suboptimal. Among relatives of patients with pancreatic ductal adenocarcinoma (PDAC), The GENetic Education, Risk Assessment, and TEsting (GENERATE) study evaluated 2 online genetic education/testing delivery models and their impact on patient-reported psychological outcomes. METHODS: Eligible participants had ≥1 first-degree relative with PDAC, or ≥1 first-/second-degree relative with PDAC with a known pathogenic germline variant in 1 of 13 PDAC predisposition genes. Participants were randomized by family, between May 8, 2019, and June 1, 2021. Arm 1 participants underwent a remote interactive telemedicine session and online genetic education. Arm 2 participants were offered online genetic education only. All participants were offered germline testing. The primary outcome was genetic testing uptake, compared by permutation tests and mixed-effects logistic regression models. We hypothesized that Arm 1 participants would have a higher genetic testing uptake than Arm 2. Validated surveys were administered to assess patient-reported anxiety, depression, and cancer worry at baseline and 3 months postintervention. RESULTS: A total of 424 families were randomized, including 601 participants (n = 296 Arm 1; n = 305 Arm 2), 90% of whom completed genetic testing (Arm 1 [87%]; Arm 2 [93%], P = .014). Arm 1 participants were significantly less likely to complete genetic testing compared with Arm 2 participants (adjusted ratio [Arm1/Arm2] 0.90, 95% confidence interval 0.78-0.98). Among participants who completed patient-reported psychological outcomes questionnaires (Arm 1 [n = 194]; Arm 2 [n = 206]), the intervention did not affect mean anxiety, depression, or cancer worry scores. CONCLUSIONS: Remote genetic education and testing can be a successful and complementary option for delivering genetics care. (Clinicaltrials.gov, number NCT03762590).
背景与目的:癌症患者家属的癌症易感性基因检测接受度不理想。在胰腺导管腺癌 (PDAC) 患者的亲属中,GENetic Education、Risk Assessment、and TEsting (GENERATE) 研究评估了 2 种在线遗传教育/检测交付模式及其对患者报告的心理结果的影响。
方法:合格的参与者至少有 1 位一级亲属患有 PDAC,或至少有 1 位一级/二级亲属患有 PDAC,并且在 13 个 PDAC 易感性基因中有 1 个致病性种系变异。参与者于 2019 年 5 月 8 日至 2021 年 6 月 1 日按家庭随机分组。Arm1 组接受远程交互式远程医疗会议和在线遗传教育。Arm2 组仅提供在线遗传教育。所有参与者均提供种系检测。主要结局是通过置换检验和混合效应逻辑回归模型比较基因检测接受率。我们假设 Arm1 组的基因检测接受率会高于 Arm2 组。在干预后 3 个月进行基线和随访时,使用经过验证的调查问卷评估患者报告的焦虑、抑郁和癌症担忧。
结果:共随机分配了 424 个家庭,包括 601 名参与者(n=296 Arm1;n=305 Arm2),其中 90%的参与者完成了基因检测(Arm1[87%];Arm2[93%],P=0.014)。与 Arm2 组相比,Arm1 组完成基因检测的可能性显著降低(调整比值 [Arm1/Arm2]0.90,95%置信区间 0.78-0.98)。在完成患者报告的心理结局问卷的参与者中(Arm1[n=194];Arm2[n=206]),干预对平均焦虑、抑郁或癌症担忧评分没有影响。
结论:远程遗传教育和检测是提供遗传护理的成功且互补的选择。(Clinicaltrials.gov,编号 NCT03762590)。
Cochrane Database Syst Rev. 2018-9-29
Cochrane Database Syst Rev. 2004-10-18
Cochrane Database Syst Rev. 2021-7-20
Cochrane Database Syst Rev. 2025-3-25
Cochrane Database Syst Rev. 2020-7-1
Cochrane Database Syst Rev. 2015-9-7
Transl Gastroenterol Hepatol. 2025-7-1
Fam Cancer. 2024-8
Genet Test Mol Biomarkers. 2023-1
JCO Precis Oncol. 2023-1
J Clin Oncol. 2022-10-1
Am Soc Clin Oncol Educ Book. 2022-4
JCO Precis Oncol. 2020-3-5
Cancer Prev Res (Phila). 2021-11