Division of Gastroenterology and Hepatology, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.
Clin Gastroenterol Hepatol. 2013 Sep;11(9):1093-100. doi: 10.1016/j.cgh.2013.04.044. Epub 2013 May 10.
BACKGROUND & AIMS: 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.
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.
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.
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.
对新诊断结直肠癌患者进行林奇综合征筛查，可以在可接受的成本下获得显著收益，假定林奇综合征先证者的一级亲属充分接受基因检测。我们进行了系统的文献回顾，以确定林奇综合征先证者一级亲属进行基因检测的频率和相关因素。
我们在 4 个数据库（CINAHL、PsycInfo、PUBMED 和 SCOPUS）中搜索了截至 2011 年 5 月发表的报告林奇综合征先证者亲属接受基因检测情况的文章。两名调查员独立筛选文章以确定其是否符合纳入标准；收集了研究人群、遗传咨询和基因检测方面的数据。采用叙述性、定性系统综述方法。
我们确定了 1258 篇潜在相关文章；对其中 533 篇进行了全文审查，最终有 8 篇文章被纳入分析。林奇综合征先证者一级亲属中，接受基因检测的比例不足 52%。每例先证者，仅有 3.6 名或更少的亲属接受了基因检测。人口统计学因素（<50 岁、女性、有子女、教育程度、就业、参加医学研究）、心理因素（无抑郁症状）和家族史（更多亲属患有癌症）与基因检测的接受情况相关。
林奇综合征患者的一级亲属的基因检测似乎利用不足。对结直肠癌患者进行林奇综合征筛查的临床获益和经济可行性取决于优化家族范围内基因检测的接受情况。未来的研究和临床工作应集中于克服基因检测障碍的方法。
