目的:对新诊断的结直肠癌患者进行Lynch综合征筛查可以在可接受的成本下产生实质性的益处。假设林奇综合征先证者的一级亲属对基因检测有足够的吸收。我们对文献进行了系统回顾,以确定Lynch综合征先证者一级亲属基因检测的频率和相关因素。
方法:我们搜索了4个数据库(CINAHL,PsycInfo,pubmed,和SCOPUS),截至2011年5月发表的文章报道了Lynch综合征先证者亲属对基因检测的吸收。两名研究人员独立筛选文章,以确定他们是否符合纳入标准;数据收集研究人群,遗传咨询,和基因检测。一个叙述,进行了定性系统评价.
结果:我们确定了1258篇潜在相关文章;533篇进行了全文回顾,和8个被包括在最终分析中。林奇综合征先证者的一级亲属,52%或更少的人接受了基因检测。对于每个先证者,3.6或更少的亲属接受基因检测。人口因素(年龄<50岁,女性性别,为人父母,教育水平,employment,参与医学研究),心理因素(缺乏抑郁症状),可能的家族史(癌症亲属数量较多)与基因检测的摄取有关。
结论:林奇综合征患者的一级亲属似乎未充分利用基因检测。筛查患有Lynch综合征的结直肠癌患者的临床益处和经济可行性取决于优化全家庭对基因检测的吸收。未来的研究和临床工作应该集中在克服基因检测障碍的方法上。
OBJECTIVE: Screening of persons with newly diagnosed colorectal cancer for Lynch syndrome can yield substantial benefits at acceptable costs, presuming sufficient uptake of genetic testing by first-degree relatives of Lynch syndrome probands. We performed a systematic
review of the literature to determine the frequency of and factors associated with genetic testing of first-degree relatives of Lynch syndrome probands.
METHODS: We searched 4 databases (CINAHL, PsycInfo, PUBMED, and SCOPUS) for articles published through May 2011 reporting uptake of genetic testing by relatives of Lynch syndrome probands. Two investigators independently screened articles to determine whether they met inclusion criteria; data were collected on study population, genetic counseling, and genetic testing. A narrative, qualitative systematic
review was performed.
RESULTS: We identified 1258 potentially relevant articles; 533 underwent full-text
review, and 8 were included in the final analysis. Of first-degree relatives of Lynch syndrome probands, 52% or less received genetic testing. For each proband, 3.6 or fewer relatives underwent genetic testing. Demographic factors (age <50 years, female sex, parenthood, level of education, employment, participation in medical studies), psychological factors (lack of depressive symptoms), and possibly family history (greater number of relatives with cancer) were associated with uptake of genetic testing.
CONCLUSIONS: Genetic testing appears to be underutilized by first-degree relatives of patients with Lynch syndrome. The clinical benefit and economic feasibility of screening persons with colorectal cancer for Lynch syndrome depend on optimizing family-wide uptake of genetic testing. Future research and clinical efforts should focus on ways to overcome barriers to genetic testing.