The Role of Behavioral Science in Personalized Genetic Medicine

描述（由申请人提供）：此职业发展应用程序的目的是提供指导的培训和研究经验，成为一个独立的癌症控制研究者，重点是基因组医学和癌症风险。基因组信息和个性化遗传医学有望在未来对疾病预防和控制产生重大影响。现有的癌症遗传易感性行为研究主要集中在相对罕见的，高度外显的基因突变;然而，单核苷酸多态性（SNP），也称为低外显基因，占所有遗传变异的90%左右。SNP检测是个性化遗传医学的典型代表，随着探索基因-基因和基因-环境相互作用的持续科学进步，SNP检测可能能够提供有关某些疾病（包括癌症）个体风险的概率信息。鉴于基因组医学的研究步伐加快和快速商业化，许多问题需要回答的潜在利益，交付和个性化遗传信息的影响。传统的遗传咨询涉及个人的深入咨询，并不是一个可行的模式，广泛传达个性化的遗传信息。随着SNP检测的普及和使用，我们建议：1）调查个体对癌症SNP检测的知识、态度和兴趣; 2）开发一种促进SNP检测知情选择的方法。第一阶段将通过焦点小组引出初级保健患者对癌症SNP检测的知识、态度和兴趣，然后将这些定性信息应用于基于ESTA的癌症SNP检测定量调查的开发、管理和分析。使用项目I的数据，知情选择模型，和我们以前的经验，第二阶段的重点是发展病人的教育材料和随机试验，比较印刷信息材料，印刷信息材料加决策支持材料的认知，情感和态度的组成部分知情选择。我们的目标是更好地了解谁对癌症SNP检测感兴趣，传达什么信息对促进SNP检测的知情选择很重要，以及如何最好地提供有关癌症SNP检测的信息。拟议的研究得到了培训计划的支持，该计划涉及与多学科同事的互动以及癌症遗传学，流行病学，公共卫生，生物统计学和生物伦理学的正式课程。相关性：这项研究的目的是了解人们对人群中常见的遗传变化引起的癌症风险的认识和想法。我们将询问人们对个性化遗传信息测试的兴趣和担忧。我们还将开发和评估不同的教育方法，以帮助人们对个性化遗传信息的测试做出明智的选择，以便这些选择符合他们的态度。

DESCRIPTION (provided by applicant): 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.