Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.
Annu Rev Genomics Hum Genet. 2010;11:427-46. doi: 10.1146/annurev-genom-082509-141604.
In this report, we describe the evolution and types of genetic information provided directly to consumers, discuss potential advantages and disadvantages of these products, and review research evaluating consumer responses to direct-to-consumer (DTC) genetic testing. The available evidence to date has focused on predictive tests and does not suggest that individuals, health care providers, or health care systems have been harmed by a DTC provision of genetic information. An understanding of consumer responses to susceptibility tests has lagged behind. The Multiplex Initiative is presented as a case study of research to understand consumers' responses to DTC susceptibility tests. Three priority areas are recommended for accelerated research activities to inform public policy regarding DTC genetic information: (a) exploring consumer's long-term responses to DTC genetic testing on a comprehensive set of outcomes, (b) evaluating optimal services to support decision making about genetic testing, and (c) evaluating best practices in promoting genetic competencies among health providers.
在本报告中,我们描述了直接向消费者提供的遗传信息的演变和类型,讨论了这些产品的潜在优缺点,并回顾了评估消费者对直接面向消费者(DTC)基因检测反应的研究。迄今为止,现有证据主要集中在预测性检测上,并没有表明个人、医疗保健提供者或医疗保健系统因 DTC 提供遗传信息而受到伤害。对易感性检测的消费者反应的理解已经落后。多指标倡议被提出作为一个案例研究,以了解消费者对 DTC 易感性检测的反应。建议加快研究活动,以制定有关 DTC 遗传信息的公共政策,有三个优先领域:(a)探索消费者对 DTC 基因检测的一系列全面结果的长期反应,(b)评估最佳服务,以支持有关基因检测的决策,以及(c)评估促进医疗服务提供者遗传能力的最佳实践。