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两种远程医疗服务模式对胰腺癌患者家庭接受基因检测的影响及其对患者报告心理结局影响的随机试验:基因教育、风险评估和检测(GENERATE)研究。

A Randomized Trial of Two Remote Health Care Delivery Models on the Uptake of Genetic Testing and Impact on Patient-Reported Psychological Outcomes in Families With Pancreatic Cancer: The Genetic Education, Risk Assessment, and Testing (GENERATE) Study.

机构信息

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.

出版信息

Gastroenterology. 2024 May;166(5):872-885.e2. doi: 10.1053/j.gastro.2024.01.042. Epub 2024 Feb 5.


DOI:10.1053/j.gastro.2024.01.042
PMID:38320723
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11034726/
Abstract

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).

摘要

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)。

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Enhancing Early Detection of Pancreatic Cancer in Genetically Predisposed Individuals: Integrating Advanced Imaging Modalities with Emerging Biomarkers and Liquid Biopsy.

Biologics. 2025-8-30

[2]
Improving uptake of germline genetic testing amongst individuals at high-risk of pancreatic ductal adenocarcinoma.

Transl Gastroenterol Hepatol. 2025-7-1

[3]
REGENERATE Generates Insights Regarding Equitable Assessment of Black and Latin Subjects at Increased Genetic Risk for Pancreatic Cancer.

Dig Dis Sci. 2025-7-7

[4]
A Mixed-Methods Approach to Assessing Barriers and Facilitators to Cancer Genetics Care in Black and Latino/a Individuals Impacted by Pancreatic Cancer: The Racial/ethnic Equity in GENetic Education, Risk Assessment, and TEsting (REGENERATE) Study.

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[5]
A WeChat-Based Decision Aid Intervention to Promote Informed Decision-Making for Family Members Regarding the Genetic Testing of Patients With Colorectal Cancer: Randomized Controlled Trial.

J Med Internet Res. 2025-4-21

[6]
Commentary: Why is genetic testing underutilized worldwide? The case for hereditary breast cancer.

BJC Rep. 2024-10-1

[7]
Expanding access to genetic testing for pancreatic cancer.

Fam Cancer. 2024-8

本文引用的文献

[1]
Remotely Delivered Cancer Genetic Testing in the Making Genetic Testing Accessible (MAGENTA) Trial: A Randomized Clinical Trial.

JAMA Oncol. 2023-11-1

[2]
Inherited Cancer Knowledge Among Black Females with Breast Cancer Before and After Viewing a Web-Based Educational Video.

Genet Test Mol Biomarkers. 2023-1

[3]
Internet-Based Germline Genetic Testing for Men With Metastatic Prostate Cancer.

JCO Precis Oncol. 2023-1

[4]
Barriers and Facilitators to Genetic Education, Risk Assessment, and Testing: Considerations on Advancing Equitable Genetics Care.

Gastroenterology. 2023-1

[5]
An evidence-based practice guideline of the National Society of Genetic Counselors for telehealth genetic counseling.

J Genet Couns. 2023-2

[6]
The Multicenter Cancer of Pancreas Screening Study: Impact on Stage and Survival.

J Clin Oncol. 2022-10-1

[7]
Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing.

Am Soc Clin Oncol Educ Book. 2022-4

[8]
Evaluating Web-Based Direct-to-Consumer Genetic Tests for Cancer Susceptibility.

JCO Precis Oncol. 2020-3-5

[9]
Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study.

Genet Med. 2022-3

[10]
Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study.

Cancer Prev Res (Phila). 2021-11

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