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风险人群的亚群。然而，对于大多数常见的癌症，易感性是由于许多基因的可变贡献，通常受环境因素的影响。评估具有中等疾病预测能力的基因（及其环境修饰因子）有望成为医疗保健的一个组成部分。有风险的人可能在发病之前就被识别出来，并采取先前建议的降低风险措施。向一般风险人群提供这一信息对他们采取减少风险做法或其心理影响的影响知之甚少。结直肠癌（CRC）的预防是研究这一新兴基因检测作用的一个有前途的领域。个体化基因和环境风险（GERA）反馈是提高CRC筛查依从性的潜在创新方法。在拟议的研究中，未坚持筛查的平均风险个体（n=1950）将被随机分配到常规护理（DC）或基于参与者MTHFR基因多态性和血清叶酸水平（环境）评估的GERA反馈。流行病学数据支持MTHFR、叶酸和CRC之间的联系。随机分配到GERA的参与者将提供MTHFR基因分型和叶酸测量。训练有素的护士将讨论检测结果（升高或平均风险），并回顾其相对于结直肠癌的意义。该研究有4个具体目的：(1)确定GERA和DC对CRC筛查率的影响；(2)确定GERA vs . DC对心理困扰的影响；(3)确定GERA和DC对CRC知识和态度的影响（例如感知风险等）；(4)确定调节GERA反馈对结直肠癌筛查利用影响的因素。心理社会数据将在基线、结果披露时、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CRC筛查的影响的信息。它也可能是关于如何将常见健康状况的基因检测最终纳入标准临床实践的相关信息。

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.