■要求个性化遗传咨询可能会给癌症风险评估带来障碍,但不知道省略咨询是否会增加痛苦。
■评估省略测试前和/或测试后遗传咨询是否会增加远程测试期间的痛苦。
■使基因检测(MAGENTA)成为4臂,随机非劣效性试验测试了个性化测试前和/或测试后遗传咨询对测试后3个月和12个月参与者痛苦的影响。参与者通过社交和传统媒体招募,且入组时间为2017年4月27日至2020年9月29日.参与者是30岁或以上的女性,说英语,美国居民,并且可以使用互联网和医疗保健专业人员。以前的癌症基因检测或咨询是排他性的。在家族史队列中,参与者有乳腺癌或卵巢癌的个人或家族史.在家族性致病变异(PV)队列中,参与者报告1位生物学亲属在可行的癌症易感基因中具有PV.数据分析在2020年12月13日至2023年5月31日之间进行。
■参与者填写了基线问卷,看了一段教育视频,并被随机分配到4个组中的1个:具有测试前和/或测试后遗传咨询的对照组,或没有测试前和测试后咨询的3个研究臂中的1个。通过电话预约提供遗传咨询,并使用家庭提供的唾液试剂盒进行测试。
■主要结果是在收到结果3个月后通过事件影响量表测量参与者的痛苦。次要结果包括完成测试,焦虑,抑郁症,和决定性的遗憾。
■共有3839名女性(中位年龄,44年[范围22-91年]),其中大多数是非西班牙裔白人,受过大学教育,是随机的,家族病史3125个,家族性PV队列714个。在家族史队列的主要分析中,在3个月时,所有实验臂均为非劣性.焦虑没有统计学上的显著差异,抑郁症,或在3个月时决定后悔。在没有预测试咨询的情况下,两个手臂的完成率最高。
■在MAGENTA临床试验中,在远程基因测试期间,省略对所有参与者的个性化测试前咨询和对没有PV的人的测试后咨询在测试后困扰方面并不逊色,为遗传风险评估提供替代护理模式。
■ClinicalTrials.gov标识符:NCT02993068。
Requiring personalized genetic counseling may introduce barriers to cancer risk assessment, but it is unknown whether omitting counseling could increase distress.
To assess whether omitting pretest and/or posttest genetic counseling would increase distress during remote testing.
Making Genetic Testing Accessible (MAGENTA) was a 4-arm, randomized noninferiority
trial testing the effects of individualized pretest and/or posttest genetic counseling on participant distress 3 and 12 months posttest. Participants were recruited via social and traditional media, and enrollment occurred between April 27, 2017, and September 29, 2020. Participants were women aged 30 years or older, English-speaking, US residents, and had access to the internet and a health care professional. Previous cancer genetic testing or counseling was exclusionary. In the family history cohort, participants had a personal or family history of breast or ovarian cancer. In the familial pathogenic variant (PV) cohort, participants reported 1 biological relative with a PV in an actionable cancer susceptibility gene. Data analysis was performed between December 13, 2020, and May 31, 2023.
Participants completed baseline questionnaires, watched an educational video, and were randomized to 1 of 4 arms: the control arm with pretest and/or posttest genetic counseling, or 1 of 3
study arms without pretest and posttest counseling. Genetic counseling was provided by phone appointments and testing was done using home-delivered saliva kits.
The primary outcome was participant distress measured by the Impact of Event Scale 3 months after receiving the results. Secondary outcomes included completion of testing, anxiety, depression, and decisional regret.
A total of 3839 women (median age, 44 years [range 22-91 years]), most of whom were non-Hispanic White and college educated, were randomized, 3125 in the family history and 714 in the familial PV cohorts. In the primary analysis in the family history cohort, all experimental arms were noninferior for distress at 3 months. There were no statistically significant differences in anxiety, depression, or decisional regret at 3 months. The highest completion rates were seen in the 2 arms without pretest counseling.
In the MAGENTA clinical
trial, omitting individualized pretest counseling for all participants and posttest counseling for those without PV during remote genetic testing was not inferior with regard to posttest distress, providing an alternative care model for genetic risk assessment.
ClinicalTrials.gov Identifier: NCT02993068.