背景:商业基因检测的在线报价,也称为直接对消费者的基因测试(DTC-GT),使公民能够根据他们的基因概况了解他们的健康和疾病风险。DTC-GT产品通常由服务或方面的组合组成,包括广告,信息,DNA分析,以及医疗或生活方式建议。对DTC-GT服务的风险和收益进行了广泛的辩论和研究,但是缺乏评估DTC-GT服务和援助政策的工具。这导致决策者之间的不确定性,执法人员,以及监管机构如何确保和平衡公共安全和自主权,以及这三个方面对公众的责任。
目的:本研究旨在开发一个框架,概述导致政策问题的DTC-GT的各个方面,并帮助提供有关DTC-GT服务的政策指导。
方法:我们进行了3个步骤:(1)综合文献综述,以确定Embase和Medline的DTC-GT服务对消费者和社会的风险和收益(2014年1月至2022年6月),(2)在消费者旅程的不同步骤中构建收益和风险,(3)制定政策指导清单。
结果:DTC-GT服务的潜在风险和收益来自134篇论文,并分为6个阶段。总之,这些阶段被称为消费者旅程:(1)暴露,(2)预测试信息,(3)DNA分析,(4)数据管理,(5)后测信息,(6)个人和社会影响。DTC-GT服务评估清单包括8个主题,涵盖38个可能在DTC-GT服务中引发政策问题的项目。主题包括以下几个方面:一般服务内容,有效性和质量保证,潜在的数据和隐私风险,科学证据和稳健性,以及所提供信息的质量。
结论:消费者旅程和清单都将DTC-GT产品细分为可能影响和损害个人和公共卫生的关键方面,安全,和自主性。这个框架有助于政策制定者,监管者,执法人员开发了解释的方法,评估,并在DTC-GT服务市场中发挥作用。
BACKGROUND: The online offer of commercial genetic tests, also called direct-to-consumer genetic tests (DTC-GTs), enables citizens to gain insight into their health and disease risk based on their genetic profiles. DTC-GT offers often consist of a combination of services or aspects, including advertisements, information, DNA analysis, and medical or lifestyle advice. The risks and benefits of DTC-GT services have been debated and studied extensively, but instruments that assess DTC-GT services and aid policy are lacking. This leads to uncertainty among policy makers, law enforcers, and regulators on how to ensure and balance both public safety and autonomy and about the responsibilities these 3 parties have toward the public.
OBJECTIVE: This study aimed to develop a framework that outlines aspects of DTC-GTs that lead to policy issues and to help provide policy guidance regarding DTC-GT services.
METHODS: We performed 3 steps: (1) an integrative literature review to identify risks and benefits of DTC-GT services for consumers and society in Embase and Medline (January 2014-June 2022), (2) structuring benefits and risks in different steps of the consumer journey, and (3) development of a checklist for policy guidance.
RESULTS: Potential risks and benefits of DTC-GT services were mapped from 134 papers and structured into 6 phases. In summary, these phases were called the consumer journey: (1) exposure, (2) pretest information, (3) DNA analysis, (4) data management, (5) posttest information, and (6) individual and societal impact. The checklist for evaluation of DTC-GT services consisted of 8 themes, covering 38 items that may raise policy issues in DTC-GT services. The themes included the following aspects: general service content, validity and quality assurance, potential data and privacy risks, scientific evidence and robustness, and quality of the provided information.
CONCLUSIONS: Both the consumer journey and the checklist break the DTC-GT offer down into key aspects that may impact and compromise individual and public health, safety, and autonomy. This framework helps policy makers, regulators, and law enforcers develop methods to interpret, assess, and act in the DTC-GT service market.