The Role of Behavioral Science in Personalized Genetic Medicine

描述(申请人提供)：该职业发展申请的目的是提供有指导的培训和研究经验，以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员。基因组信息和个性化基因医学有望对未来的疾病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学研究主要集中在相对罕见的高外显性基因突变上；然而，单核苷酸多态(SNPs)，也称为低外显性基因，约占所有遗传变异的90%。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-环境相互作用的科学不断进步，SNP检测可能能够提供关于包括癌症在内的某些疾病的个体风险的概率信息。鉴于研究步伐的加快和基因组药物的快速商业化，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得到回答。传统的遗传咨询涉及个体深度咨询，并不是在大范围内传达个性化遗传信息的可行模式。在预期SNP检测的可用性和使用率不断提高的情况下，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对SNP检测的知情选择。第一阶段将通过焦点小组激发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情景的癌症SNP检测定量调查的开发、管理和分析。利用项目I、知情选择模型的数据和我们先前的经验，第二阶段专注于患者教育材料的开发和随机试验，以比较印刷信息材料和印刷信息材料以及决策支持材料对知情选择的认知、情感和态度成分的影响。我们的目标是更好地了解谁对癌症SNP检测感兴趣，传递哪些信息对于促进SNP检测的知情选择是重要的，以及如何最好地传递关于癌症SNP检测的信息。这项拟议的研究得到了一项培训计划的支持，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方面的正式课程。相关性：这项拟议研究的目的是了解人们对由于人群中常见的基因变化而产生的癌症风险的了解和想法。我们将询问人们对个性化基因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，以帮助人们在个性化基因信息测试方面做出明智的选择，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.