Implications of Health and Genetic Literacy for Genomic Medicine

描述(申请人提供)：全基因组分析涉及分析数千个与常见疾病(如心脏病和癌症)有关的单核苷酸多态，以生成个人基因组风险概况。这项服务可以在没有医生授权或转介的情况下直接从几家公司购买，测试结果可以在线获取。在线交流提供了一种新的模式，使用户能够直接访问个人健康信息。凭借其广泛的风险信息，基因组图谱承诺预防疾病并促进积极的健康行为，从而对公共健康产生重大影响。然而，信息的复杂性可能会给用户的理解带来实质性的挑战，因为大多数美国人的健康素养排名平均到低于平均水平。因此，基因组风险信息促进积极健康行为的价值可能无法实现。患者健康信息的主要来源是健康专业人员，因此，没有专业人员参与基因组风险信息的传递和解释的影响值得探索。同样，尽管在线交流可以作为增加获得基因组风险信息的有效方法，但需要研究来评估理解、偏好和对额外信息或咨询资源的需求。这项申请旨在探索健康和遗传素养对基因组医学在基因组图谱和风险结果交付方式方面的影响。我们建议对2型糖尿病基因组风险信息的传播方法进行比较研究。受试者将被随机分组，通过在线报告或与遗传顾问进行一对一的会议来接收他们的基因组风险结果。所有受试者将完成一系列测试前和测试后的调查，以调查健康与遗传素养、对基因组风险信息的理解、预期或报告的健康行为变化以及2型糖尿病分娩方法的影响之间的关系。作为第一个此类研究之一，这项研究还将提供有价值的数据，为未来与基因组风险信息相关的研究的设计提供信息。这些数据将对促进我们对基因组风险信息的理解和利用、确定信息需求和加强有效的风险沟通以减少误解和鼓励积极的健康行为改变至关重要。 公共卫生相关性：基因组图谱具有改善疾病预防和促进积极健康行为的潜力，因此具有重大的公共健康影响。这项研究的结果对于促进我们对影响基因组风险信息理解和利用的主要因素的理解、识别信息需求以减少误解和鼓励积极的健康行为改变以及加强有效的风险沟通策略将是至关重要的。

DESCRIPTION (provided by applicant): Whole genome profiling involves the analysis of thousands of single nucleotide polymorphisms linked to common diseases such as heart disease and cancer to generate a personal genomic risk profile. This service can be purchased directly from several companies without physician authorization or referral and test results are accessible online. Online communication presents a new model to empower users with direct access to personal health information. With its broad range of risk information, genomic profiling holds the promise to prevent disease and promote positive health behaviors leading to significant public health impact. The complexity of information, however, may pose substantial challenges to user comprehension as most Americans rank average to below average for health literacy. As a result, the value of genomic risk information to promote positive health behaviors may go unrealized. A primary source of health information for patients is health professionals, and thus, the impact of not having professionals involved in the delivery and interpretation of genomic risk information warrants exploration. Likewise, although online communication may serve as an effective approach to increase access to genomic risk information, research is needed to assess comprehension, preferences, and need for additional information or counseling resources. This application aims to explore the implications of health and genetic literacy for genomic medicine in regard to genomic profiling and the manner in which risk results are delivered. We propose to conduct a comparative study of communication methods of genomic risk information for Type 2 diabetes. Subjects will be randomized to receive their genomic risk results via an online report or one-on-one session with a genetic counselor. All subjects will complete a series of pre-and post-test surveys to investigate the relationships between health and genetic literacy, comprehension of genomic risk information, and intended or reported health behavior change as well as impact of delivery method for Type 2 diabetes. As one of the first of its kind, this study will also provide valuable data to inform the design of future studies related to genomic risk information. These data will be critical to advancing our understanding of comprehension and utility of genomic risk information, identifying informational needs and enhancing effective risk communication to reduce misinterpretation and encourage positive health behavior change. PUBLIC HEALTH RELEVANCE: Genomic profiling has the potential to improve disease prevention and promote positive health behaviors and thus, holds significant public health impact. The results of this study will be critical to advancing our understanding of the primary factors influencing comprehension and utility of genomic risk information, to identify informational needs to reduce misinterpretation and encourage positive health behavior change and to enhance effective risk communication strategies.