Response to Testing Among Individual Consumers of DTC Personal Genomics Services

描述（由申请人提供）：最近出现了几项全基因组关联（GWA）研究的结果，展示了发现与几种常见复杂疾病相关的特定遗传变异。利用这些发现，并通过执行全基因组单核苷酸多态性（SNP）扫描的成本迅速下降，少数公司已经开始提供旨在使用这种全基因组技术计算个人对这些常见疾病的风险的测试，直接面向消费者（DTC）通过互联网。虽然在科学发现的这一阶段和直接向消费者提供这些测试一直是非常激烈的争议的主题，但许多个人消费者正在购买这些产品。然而，尽管如此，人们对DTC个人基因组学服务的消费者的特征知之甚少，包括他们为什么选择进行这种类型的测试，也许最关键的是，他们对结果的反应。斯克里普斯基因组健康倡议（SGHI）代表了一个开始解决这些问题的机会。SGHI是一项大型纵向队列研究，参与者以折扣价购买Navigenics Health Compass DTC基因组风险评估产品，并接受基线（即，风险披露前），以及3个月和12个月的随访（即，风险披露后）基于网络的人口统计学、家族病史和行为健康评估。此外，项目有关的态度，基因检测和感知的影响的结果，包括有关接收信息有关的基因组风险概况的困扰，管理。SGHI在很大程度上是探索性的，因为它是第一批评估DTC个人基因组服务的个人消费者对测试反应的研究之一。迄今为止，已有4，000多人参加了SGHI，尽管目前正在进行的个人招募研究目前得到了资助，但正在收集的评估数据的分析没有资金。因此，我们通过NIH探索/发展研究资助计划（R21）申请两年的资金，用于分析这些数据。我们的具体目标如下：首先，我们将描述DTC个人基因组学服务的消费者的人口统计学特征，疾病遗传风险的基线水平，行为健康特征和对基因检测的态度。其次，我们将评估消费者对检测的反应，包括与检测相关的一般焦虑和痛苦、对新疾病风险的感知、健康行为的变化以及对结果影响的态度。第三，我们将评估对检测反应的潜在调节因素，包括人口统计学特征、风险感知、健康指南中报告的风险估计以及遗传咨询服务的利用。 公共卫生相关性：拟议的项目将利用斯克里普斯基因组健康倡议（SGHI）的数据，这是一项对4,000多名基于GWAS的DTC个人基因组学服务消费者进行的大型纵向队列研究（即，特别是Navigenics Health Compass产品）。我们的目标是描述DTC个人基因组学服务的消费者，以及评估DTC基因检测的行为和心理反应，包括潜在的反应调节因子，如遗传风险水平和遗传咨询服务的利用率。在这个时候，基本上没有什么知道的影响，这项技术对消费者尽管其相对广泛的可用性和事实，许多个人消费者已经购买了这些产品。因此，拟议的工作将对这些重要问题进行初步审查，鉴于目前正在努力确定如何最好地规范这些测试的销售和使用，及时回答这些问题至关重要。

DESCRIPTION (provided by applicant): Results from several genome-wide association (GWA) studies have recently emerged showcasing the discovery of specific genetic variations found to be associated with several common, complex diseases. Leveraging these findings and fueled by the rapidly decreasing costs of performing genome-wide single nucleotide polymorphism (SNP) scans, a small number of companies have begun offering tests that aim to calculate an individual's risk for these common diseases using this genome-wide technology, direct-to-consumer (DTC) over the internet. While the offering of these tests - both at this stage of scientific discovery and directly to the consumer - has been the subject of much intense controversy, it is nevertheless the case that many individual consumers are purchasing these products. Despite this, however, relatively little is known about the characteristics of consumers of DTC personal genomics services, including why they chose to pursue this type of testing, and perhaps most critically, how they are responding to their results. The Scripps Genomic Health Initiative (SGHI) represents an opportunity to begin to address these questions. The SGHI is a large longitudinal cohort study in which participants purchase the Navigenics Health Compass DTC genomic risk assessment product at a discounted rate and are administered baseline (i.e., pre-risk disclosure), as well as 3- and 12-month follow-up (i.e., post-risk disclosure) web-based demographic, family medical history, and behavioral health assessments. In addition, items pertaining to attitudes about genetic testing and the perceived impact of the results, including distress related to receiving information pertaining to one's genomic risk profile, are administered. The SGHI is, to a large degree, exploratory in that it is one of the first studies to evaluate response to testing among individual consumers of DTC personal genomics services. To date, over 4,000 individuals have enrolled in the SGHI, and although the ongoing recruitment of individuals into the study is currently funded, analysis of the assessment data that is being collected is unfunded. Therefore, we are requesting two years of funding via the NIH Exploratory/Developmental Research Grant Program (R21) for analysis of these data. Our specific aims are as follows: First we will characterize consumers of DTC personal genomics services in terms of their demographics, baseline level of genetic risk for disease, behavioral health characteristics, and attitudes regarding genetic testing. Second, we will assess response to testing among consumers with respect to general anxiety and distress related to testing, perception of new disease risk, changes in health behaviors, and attitudes regarding the impact of results. Third, we will evaluate potential moderators of response to testing, including demographic characteristics, perception of risk, risk estimates reported in the Health Compass, and utilization of genetic counseling services. PUBLIC HEALTH RELEVANCE: The proposed project would leverage data from the Scripps Genomic Health Initiative (SGHI), a large longitudinal cohort study of over 4,000 consumers of GWAS-based DTC personal genomics services (i.e., specifically the Navigenics Health Compass product). We aim to characterize consumers of DTC personal genomics services, as well as assess behavioral and psychological response to DTC genetic testing, including potential moderators of response such as level of genetic risk and utilization of genetic counseling services. At this time there is essentially nothing known about the impact of this technology on consumers despite its relatively wide availability and the fact that many individual consumers have already purchased these products. Thus, the proposed work will provide an initial examination of these important questions to which timely answers are critical given efforts currently underway to determine how best to regulate the sale and use of these tests.