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仅提供给单基因疾病高风险人群的亚组。然而，对于大多数常见的癌症，易感性来自许多基因的可变贡献，这些基因通常受环境因素的影响。评估基因（及其环境修饰因子）对疾病具有中等预测能力，预计将成为医疗保健的一个组成部分。可在疾病发作之前确定处于危险中的人，并更早地建议采取减少危险的做法。关于向一般风险人群提供这一信息对他们采取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有希望的领域。个体化基因和环境风险（GERA）反馈代表了一种潜在的创新方法，以提高CRC筛查依从性。在拟议的研究中，不遵守筛选的平均风险个体（n = 1950）将被随机分配到常规护理（DC）或基于对参与者MTHFR基因多态性版本和血清叶酸水平（环境）的评估的GERA反馈。流行病学数据支持MTHFR，叶酸和CRC之间的联系。将为随机分配至GERA的受试者提供MTHFR基因分型和叶酸测量。经过培训的护士将讨论测试结果（升高与平均风险），并审查其相对于CRC的意义。该研究有4个具体目标：（1）确定GERA v. DC对CRC筛查率的影响;（2）确定GERA v. DC对心理困扰的影响;（3）确定GERA v. DC对CRC知识和态度（例如感知风险等）的影响;（4）确定减缓GERA反馈对CRC筛查利用率影响的因素。将在基线、结果披露时以及研究办公室访视后1周和6个月收集社会心理数据。该项目将提供有关GERA对CRC筛查参与的影响的信息。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.