Implications of Health and Genetic Literacy for Genomic Medicine

描述（由申请人提供）：全基因组分析包括分析与常见疾病（如心脏病和癌症）相关的数千个单核苷酸多态性，以生成个人基因组风险概况。这项服务可以直接从几家公司购买，无需医生授权或转诊，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。基因组分析具有广泛的风险信息，有望预防疾病和促进积极的健康行为，从而对公共卫生产生重大影响。然而，信息的复杂性可能对用户的理解构成重大挑战，因为大多数美国人在健康素养方面的排名平均到低于平均水平。因此，基因组风险信息在促进积极健康行为方面的价值可能无法实现。患者健康信息的主要来源是卫生专业人员，因此，没有专业人员参与提供和解释基因组风险信息的影响值得探讨。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途径，但仍需要研究来评估理解、偏好以及对额外信息或咨询资源的需求。本应用程序旨在探讨健康和遗传知识对基因组医学的影响，包括基因组分析和提供风险结果的方式。我们建议对2型糖尿病基因组风险信息的传播方式进行比较研究。受试者将通过在线报告或与遗传咨询师的一对一会议随机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，以调查健康与基因素养、对基因组风险信息的理解、预期或报告的健康行为改变以及2型糖尿病分娩方式的影响之间的关系。作为此类研究的首例，本研究也将为未来基因组风险信息相关研究的设计提供有价值的数据。这些数据对于增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。

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.