Onstwedder Suzanne Maria, Jansen Marleen Elizabeth, Cornel Martina Cornelia, Rigter Tessel
Department of Public Health Genomics and Screening, Centre for Health Protection, Dutch National Institute for Public Health and the Environment, Bilthoven, Netherlands.
Section Community Genetics, Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
J Med Internet Res. 2024 Jul 17;26:e47389. doi: 10.2196/47389.
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.
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.
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.
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.
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.
商业基因检测的在线服务，也称为直接面向消费者的基因检测（DTC-GT），使公民能够根据自己的基因图谱深入了解自身健康状况和疾病风险。DTC-GT服务通常由多种服务或方面组合而成，包括广告、信息、DNA分析以及医疗或生活方式建议。DTC-GT服务的风险和益处已得到广泛辩论和研究，但缺乏评估DTC-GT服务并辅助制定政策的工具。这导致政策制定者、执法人员和监管机构在如何确保和平衡公共安全与自主权以及这三方对公众应承担的责任方面存在不确定性。
本研究旨在制定一个框架，概述导致政策问题的DTC-GT方面，并帮助提供有关DTC-GT服务的政策指导。
我们进行了三个步骤：（1）在Embase和Medline数据库（2014年1月至2022年6月）中进行综合文献综述，以确定DTC-GT服务对消费者和社会的风险和益处；（2）在消费者旅程的不同阶段构建益处和风险；（3）制定政策指导清单。
从134篇论文中梳理出DTC-GT服务的潜在风险和益处，并将其分为6个阶段。简而言之，这些阶段被称为消费者旅程：（1）接触；（2）检测前信息；（3）DNA分析；（4）数据管理；（5）检测后信息；（6）个人和社会影响。DTC-GT服务评估清单由8个主题组成，涵盖38个可能在DTC-GT服务中引发政策问题的项目。这些主题包括以下方面：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。
消费者旅程和清单都将DTC-GT服务分解为可能影响和损害个人及公众健康、安全和自主权的关键方面。该框架有助于政策制定者、监管机构和执法人员制定在DTC-GT服务市场中进行解释
