The Role of Behavioral Science in Personalized Genetic Medicine

这个职业发展应用程序的目的是提供一个指导的培训和研究 成为一名独立的癌症控制研究者，专注于基因组医学， 癌症风险。基因组信息和个性化遗传医学有望显著影响 未来的疾病预防和控制。关于癌症遗传易感性的现有行为研究 主要集中在相对罕见的，高度渗透的基因突变;然而，单核苷酸 多态性（SNP），也称为低多态性基因，占所有遗传变异的约90%。 SNP测试是个性化遗传医学的典型代表，随着科学的不断进步，探索 基因-基因和基因-环境相互作用，SNP检测可能能够提供概率信息 个人患某些疾病的风险，包括癌症。鉴于研究的步伐不断加快， 随着基因组医学的快速商业化，许多关于潜在利益的问题需要回答。 个性化遗传信息的传递和影响。传统的遗传咨询包括 个人深入咨询，并不是一个可行的模式，传达个性化的遗传信息上， 广泛的规模。随着SNP检测的日益普及和使用，我们建议：1）研究 个人对癌症SNP检测的知识、态度和兴趣; 2）开发一种方法 促进SNP检测的知情选择。第一阶段将调查初级保健病人的知识、态度， 通过焦点小组对癌症SNP测试感兴趣，然后将这些定性信息应用于 癌症SNP定量调查的开发、管理和分析 试验.利用项目I的数据、知情选择模型和我们以前的经验，第二阶段侧重于 患者教育材料的开发和一项比较印刷信息材料的随机试验 印刷信息材料加上决策支持材料的认知，情感，和态度 知情选择的组成部分。我们的目标是更好地了解谁对癌症SNP检测感兴趣， 信息是重要的传达，以促进知情选择SNP检测，以及如何最好地提供 关于癌症SNP检测的信息。拟议的研究得到了一项培训计划的支持， 与多学科同事的互动和癌症遗传学，流行病学，公众 健康、生物统计学和生物伦理学。相关性：拟议研究的目的是了解 人们知道并思考由于人群中常见的基因变化而导致的癌症风险。我们将 询问人们对个性化遗传信息测试的兴趣和担忧。我们将 我还开发和评估不同的教育方法，以帮助人们对考试做出明智的选择 个性化的遗传信息，这样这些选择就能符合他们的态度。

The purpose of this career development application is to provide a mentored training and research experience to become an independent cancer control investigator with a focus on genomic medicine and cancer risk. Genomic information and personalized genetic medicine are expected to significantly impact disease prevention and control in the future. Existing behavioral research on genetic susceptibility to cancer focuses primarily on relatively rare, highly penetrant genetic mutations;however, single nucleotide polymorphisms (SNPs), also called low-penetrance genes, account for about 90% of all genetic variation. SNP testing typifies personalized genetic medicine and, with continued scientific advancements exploring gene-gene and gene-environment interactions, SNP testing may be able to provide probabilistic information about individual risk for certain diseases, including cancer. Given the accelerating pace of research and the rapid commercialization of genomic medicine, many questions need to be answered about potential interest in, delivery of, and impact of personalized genetic information. Traditional genetic counseling involves individual in-depth counseling and is not a viable model for conveying personalized genetic information on a broad scale. In anticipation of the increasing availability and use of SNP testing, we propose to 1) investigate individuals' knowledge of, attitudes toward, and interest in cancer SNP testing and 2) develop an approach to promote informed choice about SNP testing. Phase I will elicit primary care patients' knowledge, attitudes, and interest in cancer SNP testing through focus groups and then apply this qualitative information to the development, administration, and analysis of a scenario-based quantitative survey about cancer SNP testing. Using data from Project I, the Informed Choice Model, and our prior experience, Phase II focuses on development of patient education materials and a randomized trial to compare print informational materials to print informational materials plus decision support materials on the cognitive, affective, and attitudinal components of informed choice. We aim to better understand who is interested in cancer SNP testing, what information is important to convey to promote informed choice for SNP testing, and how to best deliver information about cancer SNP testing. The proposed research is supported by a training plan that involves interactions with multidisciplinary colleagues and formal coursework in cancer genetics, epidemiology, public health, biostatistics, and bioethics. Relevance: The purpose of the proposed research is to understand what people know and think about cancer risk due to genetic changes that are common in the population. We will ask people about their interest in and concerns about testing for personalized genetic information. We will also develop and evaluate different education approaches to help people make informed choices about tests for personalized genetic information so that these choices fit with their attitudes.