The Role of Behavioral Science in Personalized Genetic Medicine

行为科学在个性化基因医学中的作用

• 批准号: 7359839
• 负责人: KRISTI D. GRAVES
• 金额: $ 13.68万
• 依托单位: GEORGETOWN UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-03-07 至 2013-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7359839
• 关键词: Accounting; Affective; Alcohol consumption; Attitude; Behavioral; Behavioral Research; Behavioral Sciences; Bioethics; Biometry; Cancer Control; Cancer-Predisposing Gene; Cardiovascular Diseases; Clinic; Clinical; Clinical Medicine; Cognitive; Colorectal Cancer; Complex; Comprehension; Confidentiality; Counseling; Data; Depth; Development; Diabetes Mellitus; Diffusion; Disease; Education; Ensure; Etiology; Focus Groups; Fostering; Future; Gene Mutation; Genes; Genetic; Genetic Counseling; Genetic Medicine; Genetic Predisposition to Disease; Genetic Variation; Genetics and Medicine; Genomics; Goals; Human Genetics; Human Genome; Human Genome Project; Individual; Institute of Medicine (U.S.); Knowledge; Link; Malignant Neoplasms; Marketing; Medicine; Mentors; Modeling; Mutation; Numbers; Outcome; Participant; Patient Education; Patients; Penetrance; Phase; Physicians; Population; Primary Health Care; Printing; Privacy; Provider; Public Health; Purpose; Randomized Controlled Clinical Trials; Recommendation; Recruitment Activity; Research; Research Personnel; Research Training; Risk; Risk Reduction; Role; Scientific Advances and Accomplishments; Single Nucleotide Polymorphism; Stigmatization; Surveys; Technology; Testing; Thinking; Training; Variant; Woman; base; cancer genetics; cancer risk; career; commercialization; cost; disorder prevention; disorder risk; experience; gene environment interaction; genetic epidemiology; interest; malignant breast neoplasm; men; multidisciplinary; pleiotropism; psychosocial; trait

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.

描述（由申请人提供）：本职业发展应用程序的目的是提供指导的培训和研究经验，以成为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预计将来会显着影响疾病的预防和控制。现有关于遗传易感性的行为研究主要集中在相对罕见的高度渗透遗传突变上。然而，单核苷酸多态性（SNP），也称为低渗透基因，约占所有遗传变异的90％。 SNP测试代表了个性化的遗传医学，并且随着探讨基因基因和基因环境相互作用的持续科学进步，SNP测试可能能够提供有关某些疾病（包括癌症）的个人风险的概率信息。鉴于研究的加速和基因组医学的快速商业化的加速，需要回答许多有关对个性化遗传信息的潜在兴趣，交付和影响的问题。传统的遗传咨询涉及个人深入咨询，并且不是大规模传达个性化遗传信息的可行模型。期望SNP测试的可用性增加和使用，我们建议1）调查个人对癌症SNP测试的了解，对态度和兴趣； 2）开发一种方法来促进有关SNP测试的知情选择。第一阶段将通过焦点小组引起初级保健患者的知识，态度和对癌症SNP测试的兴趣，然后将此定性信息应用于基于场景的癌症SNP测试的基于方案的定量调查的开发，管理和分析。使用项目I的数据，知情选择模型以及我们先前的经验，第二阶段的重点是开发患者教育材料和随机试验，以比较印刷信息材料以打印信息材料以及有关知情选择的认知，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测试感兴趣，对于促进SNP测试的知识选择以及如何最好地提供有关癌症SNP测试的信息很重要。拟议的研究得到了一项培训计划的支持，该计划涉及与癌症遗传学，流行病学，公共卫生，生物统计学和生物伦理学方面的多学科同事的互动和正式课程。相关性：拟议研究的目的是了解人们对癌症风险的了解和考虑，这是由于人群中常见的遗传变化而导致的。我们将向人们询问他们对个性化遗传信息的兴趣以及对测试的疑虑。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，以使这些选择符合他们的态度。