Department of Gynecologic Oncology and Reproductive Medicine, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina, USA.
Int J Gynecol Cancer. 2021 May;31(5):779-783. doi: 10.1136/ijgc-2020-002118. Epub 2020 Dec 18.
Identifying mutation-carrying relatives of patients with hereditary cancer syndromes via cascade testing is an underused first step in primary cancer prevention. A feasibility study of facilitated genetic testing of at-risk relatives of patients with a known pathogenic mutation demonstrated encouraging uptake of cascade testing.
Our primary objective is to compare the proportion of genetic testing of identified first-degree relatives of probands with a confirmed mutation randomized to a facilitated cascade testing strategy versus standard of care, proband-mediated, information sharing.
We hypothesize that facilitated cascade testing will drive significantly higher uptake of genetic testing than the standard of care.
The FaCT (Facilitated Cascade Testing) trial is a prospective multi-institutional randomized study comparing the efficacy of a multicomponent facilitated cascade testing intervention with the standard of care. Patients with a known mutation (probands) cared for at participating sites will be randomized. Probands randomized to the standard of care group will be instructed to share a family letter with their first-degree relatives and encourage them to complete genetic testing. First-degree relatives of probands randomized to the intervention arm will receive engagement strategies with a patient navigator, an educational video, and accessible genetic testing services.
MAJOR INCLUSION/EXCLUSION CRITERIA: Adult participants who are first-degree relatives of a patient with a mutation and have not had prior genetic testing will be included.
Analyses will assess the proportion of first-degree relatives identified by the proband who complete genetic testing by 6 months in the intervention arm versus the control arm.
One hundred and fifty probands with a BRCA1/2 mutation will be randomized. Each proband is expected to provide an average of 3 relatives, for an expected 450 participants.
January 2024.
NCT04613440.
通过级联检测识别遗传性癌症综合征患者的携带突变的亲属是初级癌症预防中未充分利用的第一步。对患有已知致病性突变的患者的高危亲属进行便利基因检测的可行性研究表明，级联检测的接受度很高。
我们的主要目标是比较随机分配到便利级联检测策略的患者一级亲属与标准护理（患者介导的信息共享）的一级亲属中接受基因检测的比例。
我们假设便利级联检测将显著提高基因检测的接受率，超过标准护理。
FaCT（便利级联检测）试验是一项前瞻性多机构随机研究，比较了多组分便利级联检测干预与标准护理的疗效。在参与地点接受治疗的已知突变（先证者）患者将被随机分组。随机分配到标准护理组的先证者将被指示与一级亲属分享家庭信，并鼓励他们完成基因检测。先证者随机分配到干预组的一级亲属将接受患者导航员、教育视频和可及的基因检测服务的参与策略。
主要纳入/排除标准：未接受过先前基因检测的一级亲属且为突变患者的成年参与者将被纳入。
分析将评估干预组与对照组中通过 6 个月完成基因检测的一级亲属比例。
将随机分配 150 名具有 BRCA1/2 突变的先证者。每位先证者预计提供平均 3 名亲属，预计将有 450 名参与者。
2024 年 1 月。
NCT04613440。
