Gene-Environmental Risk Assessment and CRC Screening

描述(由申请人提供)：癌症易感性的基因检测目前只提供给单基因疾病高危人群的亚群。然而，对于大多数常见的癌症来说，易感性是由于许多基因的不同贡献造成的，这些基因通常受到环境因素的影响。评估对疾病具有中等预测能力的基因(及其环境修饰物)有望成为医疗保健不可或缺的一部分。高危人群可在发病前确定，并可采取先前建议的减少风险措施。关于向一般风险人群提供这种信息对他们采用减少风险做法的影响或其心理影响，人们知之甚少。结直肠癌(CRC)预防是研究基因检测这一新兴作用的一个很有前途的领域。个体化基因和环境风险(GERA)反馈是提高CRC筛查依从性的一种潜在的创新方法。在拟议的研究中，不遵守筛查的平均风险个人(n=1950)将根据参与者MTHFR基因的多态版本和血清叶酸水平(环境)的评估被随机分配到常规护理(DC)或GERA反馈。流行病学数据支持MTHFR、叶酸和结直肠癌之间的联系。被随机分配到GERA的参与者将接受MTHFR基因分型和叶酸测量。训练有素的护士将讨论检测结果(增加的风险与平均风险)，并审查它们相对于结直肠癌的重要性。这项研究有4个具体目标：(1)确定GERA诉DC对结直肠癌筛查率的影响；(2)确定GERA诉DC对心理困扰的影响；(3)确定GERA诉DC对结直肠癌知识和态度(如感知风险等)的影响；以及(4)确定缓和GERA反馈对结直肠癌筛查利用的影响的因素。心理社会数据将在基线、结果公布时、研究办公室访问后1周和6个月收集。该项目将提供有关GERA对参与儿童疾病筛查的影响的信息。它也可能是关于常见医疗条件的基因检测最终将如何整合到标准临床实践中的相关信息。

DESCRIPTION (provided by applicant): Genetic testing for cancer susceptibility is currently offered only to subgroups of the population at high risk for single gene disorders. However, for most common cancers, susceptibility results from the variable contributions of many genes usually influenced by environmental factors. Assessing genes (and their environmental modifiers) with moderate predictive power for disease is expected to become an integral part of healthcare. At-risk persons might be identified before disease onset and risk reduction practices recommended earlier. Little is known about the effect of providing this information to average risk persons on their adoption of risk reduction practices or its psychological impact. Colorectal cancer (CRC) prevention is a promising area to study this emerging role for genetic testing. Individualized gene and environmental risk (GERA) feedback represents a potentially innovative method to increase CRC screening compliance. In the proposed study, average risk individuals (n=1950) who are not adherent to screening will be randomly assigned to usual care (DC) or to GERA feedback based on an assessment of the participant's polymorphic version of the MTHFR gene and serum folate level (environment). Epidemiological data support links between MTHFR, folate and CRC. Participants randomized to GERA will be offered MTHFR genotyping and folate measurement. A trained nurse will discuss testing results (elevated v. average risk) and review their significance relative to CRC. The study has 4 specific aims:(1) to determine the impact of GERA v. DC on CRC screening rates; (2) to determine the impact of GERA v. DC on psychological distress; (3) to determine the impact of GERA v. DC on CRC knowledge and attitudes (e.g. perceived risk etc); and (4) to identify factors that moderate the impact of GERA feedback on CRC screening utilization. Psychosocial data will be collected at baseline, at the time of results disclosure, and 1 week and 6 months after the study office visit. This project will provide information about the effect of GERA on CRC screening participation. It may also be relevant information about how genetic testing for common healthcare conditions will ultimately be integrated into standard clinical practice.