Ramsey Scott, Blough David, McDermott Cara, Clarke Lauren, Bennett Robin, Burke Wylie, Newcomb Polly
Fred Hutchinson Cancer Research Center, University of Washington, Seattle, Wash. 98109, USA.
Public Health Genomics. 2010;13(1):1-12. doi: 10.1159/000206346. Epub 2009 Mar 2.
Several gene variants conveying a modestly increased risk for disease have been described for colorectal cancer. Patient acceptance of gene variant testing in clinical practice is not known. We evaluated the potential impact of hypothetical colorectal-cancer-associated gene variant testing on quality of life, health habits and cancer screening behavior.
First-degree relatives of colorectal cancer patients and controls from the Seattle Colorectal Cancer Familial Registry were invited to participate in a web-based survey regarding testing for gene variants associated with colorectal cancer risk.
310 relatives and 170 controls completed the questionnaire. Quality of life for the hypothetical carrier state was modestly and nonsignificantly lower than current health after adjustment for sociodemographic and health factors. In the positive test scenario, 30% of respondents expressed willingness to change their diet, 25% to increase exercise, and 43% to start colorectal cancer screening. The proportions willing to modify these habits did not differ between groups.
Testing for gene variants associated with colorectal cancer risk may not influence quality of life, but may impact health habits and screening adherence. Changing behaviors as a result of testing may help to reduce cancer incidence and mortality, particularly among those at higher risk for colorectal cancer.
已发现几种基因变异与结直肠癌风险的适度增加有关。在临床实践中，患者对基因变异检测的接受程度尚不清楚。我们评估了假设的结直肠癌相关基因变异检测对生活质量、健康习惯和癌症筛查行为的潜在影响。
邀请来自西雅图结直肠癌家族登记处的结直肠癌患者的一级亲属和对照参与一项关于结直肠癌风险相关基因变异检测的网络调查。
310名亲属和170名对照完成了问卷。在对社会人口统计学和健康因素进行调整后，假设携带者状态下的生活质量略低于当前健康状况，但差异无统计学意义。在检测呈阳性的情况下，30%的受访者表示愿意改变饮食，25%愿意增加运动，43%愿意开始进行结直肠癌筛查。两组中愿意改变这些习惯的比例没有差异。
检测与结直肠癌风险相关的基因变异可能不会影响生活质量，但可能会影响健康习惯和筛查依从性。检测导致的行为改变可能有助于降低癌症发病率和死亡率，尤其是在结直肠癌高危人群中。
