Results From the Genetic Information and Family Testing Study: A Cluster-Randomized Trial.

Direct engagement of relatives through cancer survivors is a promising approach to bridge this gap.

通过癌症幸存者直接参与亲属是弥合这一差距的有希望的方法。

Methods

We conducted a population-based cluster-randomized clinical trial (Genetic Information and Family Testing [GIFT]) of an online, direct-to-family, cancer genetic education and communication tool including the offer of home testing to adult relatives of cancer survivors diagnosed in 2018-2019 who carried a pathogenic variant.

我们开展了一项基于人群的群体随机临床试验（遗传信息与家庭检测[GIFT]），该试验涉及一种在线的、直接面向家庭的癌症遗传教育和沟通工具，包括向2018-2019年间被诊断出携带致病性变异的癌症幸存者的成年亲属提供家庭检测。

We selected patients through SEER and surveyed them for eligibility followed by a trial invitation.

我们通过SEER选择患者，对他们的资格进行调查，然后发出试验邀请。

Two features were randomized: assistance from a human navigator (yes, no) and testing cost (free v $50).

随机化了两个特征：是否有人类导航员的协助（是，否）以及检测成本（免费与50美元）。

We hypothesized that the fraction of relatives tested in a family (primary outcome) would be higher with a navigator and free testing.

我们假设，在家庭中接受检测的亲属比例（主要结果指标）在有人类导航员协助和免费检测的情况下会更高。

Results

Four thousand three hundred patients were surveyed and 2,285 responded (53.1%); 2,006 eligible respondents were invited (87.8%) and 414 enrolled (20.6%).

调查了四千三百名患者，其中2,285名作出了回应（53.1%）；2,006名符合条件的受访者被邀请（87.8%），最终有414名患者参与（20.6%）。

Enrolled patients reported a total of 4,946 first- and second-degree relatives (mean, 12.3; standard deviation [SD], 8.6); they invited 948 relatives (19.2%) and 303 enrolled (32.0%).

参与研究的患者报告了总共4,946名直系和旁系亲属（平均数，12.3；标准差[SD]，8.6）；他们邀请了948名亲属（19.2%），最终有303名亲属参与（32.0%）。

Most enrolled relatives ordered testing (267, 91.3%); more than double were tested in the free versus $50 arm (odds ratio [OR], 2.5 [1.6-3.9]), but the baseline fraction tested was low at 0.03 and thus the absolute increase was modest (0.04 [95% CI, 0.02 to 0.05]).

大多数已登记的亲属进行了检测（267人，91.3%）；在免费检测组与50美元检测组相比，接受检测的人数翻了一倍多（比值比[OR]，2.5 [1.6-3.9]），但基线检测比例很低，仅为0.03，因此绝对增加量相对较小（0.04 [95% 置信区间，0.02到0.05]）。

We did not find evidence for increased testing in the navigation arm (OR, 1.3 [0.8-2.1]).

我们在导航组中没有发现检测率增加的证据（OR，1.3 [0.8-2.1]）。

Conclusions

GIFT is a promising blueprint for online cascade genetic education and testing.

GIFT 是在线级联遗传教育和检测的一个有前景的蓝图。

Results suggest that a low-cost, population-level intervention could be deployed without a human navigator.

结果表明，无需人工导航员，即可部署一种低成本、针对人群的干预措施。

Additional intervention strategies are needed to increase the modest invitation and testing uptake observed in this study.

需要额外的干预策略来提高本研究中观察到的邀请和检测接受率的适度提升。