The Role of Behavioral Science in Personalized Genetic Medicine

描述（由申请人提供）：此职业发展申请的目的是为成为一名专注于基因组医学和癌症风险的独立癌症控制研究者提供指导培训和研究经验。基因组信息和个性化基因医学有望在未来对疾病的预防和控制产生重大影响。现有的关于癌症遗传易感性的行为研究主要集中在相对罕见的、高渗透的基因突变上；然而，单核苷酸多态性（snp），也称为低外显率基因，约占所有遗传变异的90%。SNP检测是个性化基因医学的典型，随着科学对基因-基因和基因-环境相互作用的不断探索，SNP检测可能能够提供某些疾病（包括癌症）个体风险的概率信息。随着研究步伐的加快和基因组医学的快速商业化，许多关于个性化遗传信息的潜在兴趣、传递和影响的问题需要回答。传统的遗传咨询涉及个体的深度咨询，不适合广泛地传递个性化的遗传信息。随着SNP检测的可用性和使用的增加，我们建议：1)调查个人对癌症SNP检测的知识、态度和兴趣；2)开发一种方法来促进SNP检测的知情选择。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场景的癌症SNP检测定量调查的开发、管理和分析。利用项目一的数据，知情选择模型和我们之前的经验，第二阶段的重点是患者教育材料的开发和随机试验，以比较打印信息材料和打印信息材料加上知情选择的认知、情感和态度组成部分的决策支持材料。我们的目标是更好地了解谁对癌症SNP检测感兴趣，哪些信息是重要的，以促进SNP检测的知情选择，以及如何最好地传递有关癌症SNP检测的信息。拟议的研究得到了一个培训计划的支持，该计划包括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方面的正式课程。相关性：拟议研究的目的是了解人们对人群中常见的基因变化导致的癌症风险的了解和看法。我们将询问人们对个性化基因信息检测的兴趣和关注。我们还将制定和评估不同的教育方法，以帮助人们对个性化遗传信息的检测做出知情选择，从而使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.