Response to Testing Among Individual Consumers of DTC Personal Genomics Services

DTC 个人基因组学服务的个人消费者对测试的反应

基本信息

批准号：
8101300
负责人：
Cinnamon S Bloss
金额：
$ 12.52万
依托单位：
SCRIPPS HEALTH
依托单位国家：
美国
项目类别：
财政年份：
2010
资助国家：
美国
起止时间：
2010-07-01 至 2012-03-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8101300
关键词：
Address Age Anxiety Attitude BRCA1 gene Behavior Behavioral California Caucasians Caucasoid Race Censuses Characteristics Clinics and Hospitals Cohort Studies Colorectal Cancer Complex Consultations Counseling Data Data Analyses Development Disadvantaged Disclosure Disease Distress Education Employee Health Enrollment Ethnic Origin Europe Event Exploratory/Developmental Grant Family Family history of Fees Funding Gender Gene Mutation Genetic Counseling Genetic Risk Genetic Variation Genetic screening method Genomics Health Health Status Health behavior Individual Internet Interview Life Style Medical National Health Interview Survey National Health and Nutrition Examination Survey Online Systems Participant Patient Self-Report Perception Physicians Population Recording of previous events Relative (related person)Relative Risks Reporting Research Research Project Grants Risk Risk Assessment Risk Estimate Sales Scanning Screening procedure Services Single Nucleotide Polymorphism Socioeconomic Status Staging Surveys Technology Testing Time United States United States National Institutes of Health Variant Work base behavior change behavioral health biobank cohort cost demographics diet and exercise discount disorder risk follow-up genome wide association study genome-wide malignant breast neoplasm population based psychologic public health relevance response risk perception

项目摘要

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.

描述（由申请人提供）：最近出现的几项全基因组关联（GWA）研究的结果展示了与几种常见、复杂疾病相关的特定遗传变异的发现。利用这些发现，并在执行全基因组单核苷酸多态性 (SNP) 扫描的成本迅速下降的推动下，少数公司已开始提供旨在使用这种全基因组技术计算个人患这些常见疾病的风险的测试，通过互联网直接面向消费者 (DTC)。虽然这些测试的提供——无论是在科学发现的现阶段还是直接向消费者提供——一直受到激烈争议，但许多个人消费者仍在购买这些产品。然而，尽管如此，人们对 DTC 个人基因组学服务消费者的特征知之甚少，包括他们为什么选择进行此类测试，或许最关键的是，他们对结果有何反应。斯克里普斯基因组健康计划 (SGHI) 提供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（即风险前披露）以及 3 个月和 12 个月的随访（即风险后披露）基于网络的人口统计、家族病史和行为健康评估。此外，还管理与对基因检测的态度和结果的感知影响有关的项目，包括与接收有关个人基因组风险状况的信息相关的痛苦。 SGHI 在很大程度上是探索性的，因为它是评估 DTC 个人基因组学服务的个人消费者对测试的反应的首批研究之一。迄今为止，已有 4,000 多人参加了 SGHI，尽管目前正在进行的研究招募工作已获得资助，但对正在收集的评估数据的分析却没有资助。因此，我们请求通过 NIH 探索/发展研究资助计划 (R21) 提供两年的资金来分析这些数据。我们的具体目标如下：首先，我们将根据人口统计数据、疾病遗传风险基线水平、行为健康特征以及对基因检测的态度来描述 DTC 个人基因组学服务消费者的特征。其次，我们将评估消费者对测试的反应，包括与测试相关的普遍焦虑和痛苦、对新疾病风险的认知、健康行为的变化以及对结果影响的态度。第三，我们将评估测试反应的潜在调节因素，包括人口特征、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。公共健康相关性：拟议的项目将利用斯克里普斯基因组健康计划 (SGHI) 的数据，这是一项大型纵向队列研究，对基于 GWAS 的 DTC 个人基因组学服务（即特别是 Navigenics Health Compass 产品）的 4,000 多名消费者进行了研究。我们的目标是描述 DTC 个人基因组学服务的消费者特征，并评估对 DTC 基因检测的行为和心理反应，包括潜在的反应调节因素，例如遗传风险水平和遗传咨询服务的利用。目前，尽管这项技术的可用性相对广泛，而且许多个人消费者已经购买了这些产品，但人们基本上对这项技术对消费者的影响一无所知。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。