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癌症遗传性倾向的电子健康交付替代方案:随机试验协议

Kimberley T Lee^1,2, Briana McLeod¹, Brian Egleston³

¹Division of Hematology/Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA, United States.

JMIR research protocols

|August 25, 2025

概括

在eREACH研究中对转移性癌症患者进行基因检测的数字干预进行了测试,旨在改善获取和结果. 结果尚未公布, 但这种方法可能会扩大基因测试的可用性.

科学领域:

癌症学
遗传学
数字健康

背景情况:

基因线BRCA1/2检测是癌症风险,查和PARP抑制剂的标准.
PARP 抑制剂已被批准用于转移性乳腺癌,卵巢癌,胰腺癌和前列腺癌,增加了检测指示.
许多有风险的患者无法获得遗传服务,

研究的目的:

这项eREACH研究评估了癌症遗传检测中传统遗传咨询的电子健康 (数字) 替代方案.
它评估了这种数字干预对转移性乳腺癌,卵巢癌,胰腺癌或前列腺癌患者的有效性.
目的是确定数字传递是否是识别PARP抑制剂候选者的可行选择.

主要方法:

一个随机的非劣势研究 (2x2设计) 将数字干预与标准遗传咨询进行比较.
患有转移性癌症的参与者接受了全方位咨询,混合咨询/数字化或全方位数字化干预.
主要测量结果是基因知识和焦虑从基线到披露后的变化.

主要成果:

截至2025年1月,已完成229名参与者的招生.
数据分析正在进行中,预计结果将于2025年公布.
该研究将确定数字干预是否与标准护理无差.

结论:

越来越需要替代性基因测试交付模式来改善获取和采用.
该研究评估了以患者为中心的交互式数字干预,用于转移性癌症的临床遗传测试.
预计这些发现将为基因检测提供指导方针和护理标准提供信息,并可能具有更广泛的适用性.

关键词:

数字健康遗传咨询服务基因检测转移性癌症,数字遗传教育

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