Gene-Environmental Risk Assessment and CRC Screening

基因环境风险评估和CRC筛查

基本信息

批准号：
7276575
负责人：
DAVID S WEINBERG
金额：
$ 73.03万
依托单位：
FOX CHASE CANCER CENTER
依托单位国家：
美国
项目类别：
财政年份：
2006
资助国家：
美国
起止时间：
2006-08-15 至 2011-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7276575
关键词：
Address Adenomatous Polyposis Coli Adherence Adoption Adult Affect Age Anxiety Area Attitude Biological Markers Blood specimen Cancer Etiology Caring Cessation of life Clinical Colon Carcinoma Colorectal Cancer Condition Data Disclosure Disease Enrollment Environment Environmental Risk Factor Family Fecal occult blood Feedback Folate Future Gene Abnormality Gene Mutation General Population Genes Genetic Genetic Polymorphism Genetic Predisposition to Disease Genetic screening method Genotype Goals Guidelines Health Healthcare Human Incidence Individual Institutes Intention Intervention Studies Joints Knowledge Label Link Literature Mails Malignant Neoplasms Measurement Measures Methods Methylenetetrahydrofolate reductase (NADPH)Modeling Mutation Numbers Nurses Office Visits Onset of illness Outcome Outcome Study Participant Patients Persons Pilot Projects Population Predisposition Preventive Primary Health Care Process Provider Psychological Impact Randomized Range Rate Recommendation Relative (related person)Research Risk Risk Assessment Risk Reduction Risk Reduction Behavior Role Screening for cancer Screening procedure Serum Serum Folate Level Standards of Weights and Measures Stratification Subgroup Surveys Test Result Testing Time Training Treatment/Psychosocial Effects Upper arm Week Work base behavior change cancer prevention cancer risk colorectal cancer prevention colorectal cancer screening folic acid metabolism gene environment interaction improved indexing innovation interest malignant breast neoplasm mortality motivated behavior novel psychological distress psychosocial uptake

项目摘要

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.

描述（由申请人提供）：目前仅向单基因疾病高危人群亚群提供癌症易感性基因检测。然而，对于大多数常见的癌症，易感性是由许多基因的可变贡献造成的，这些基因通常受环境因素的影响。评估对疾病具有中等预测能力的基因（及其环境调节剂）预计将成为医疗保健不可或缺的一部分。可以在疾病发作之前识别出高危人群，并提前建议降低风险的做法。对于向普通风险人群提供这些信息对他们采取降低风险做法的影响或其心理影响知之甚少。结直肠癌 (CRC) 预防是研究基因检测这一新兴作用的一个有前景的领域。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，可提高 CRC 筛查的依从性。在拟议的研究中，根据对参与者 MTHFR 基因多态性版本和血清叶酸水平的评估，不遵守筛查的平均风险个体 (n=1950) 将被随机分配到常规护理 (DC) 或 GERA 反馈组（环境）。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（升高风险与平均风险）并审查其相对于 CRC 的重要性。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 诉 DC 对心理困扰的影响； (3) 确定 GERA 诉 DC 对 CRC 知识和态度（例如感知风险等）的影响； (4) 确定调节 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问后 1 周和 6 个月收集心理社会数据。该项目将提供有关 GERA 对 CRC 筛查参与的影响的信息。它还可能是有关常见医疗保健条件的基因检测最终如何整合到标准临床实践中的相关信息。