Doctoral Dissertation: Genetic Screening at Home: Interpretive Policy Analysis of Direct-to-Consumer Genetic Testing

本项目审查了有关直接面向消费者的基因检测广告的联邦法规。它提出了两个主要问题：(1)美国联邦监管机构（如食品和药物管理局）如何对直接面向消费者的基因检测进行分类、分析和监管；(2)专业组织、倡导团体和研究机构等其他团体对直接面向消费者的遗传学监管有什么影响？虽然学者们批判性地研究了基因测试如何使某些身份和社会类别永久化，但我们对基因测试受到监管的过程知之甚少。目前的研究促进了我们对这一问题的理解，这与生物医学中出现的三个主要趋势有关。其中包括从基因诊断到遗传风险的转变，将患者重新定义为消费者，以及遗传学的去医学化。因此，这个项目增加了我们对直接面向消费者的基因检测的学术理解，因为它正在医学和健康领域发生的更广泛的社会和文化变革中展开。这是一项多方法的社会科学调查，探讨了有关直接面向消费者的基因检测的联邦法规的形成因素。项目的主要数据来自档案文件、访谈和参与者观察。该项目的主要目标是了解联邦机构是如何构思和管理直接面向消费者的基因检测广告的，以及外部利益相关者团体在塑造围绕商业基因检测的联邦法规方面的相对权力。开展这项研究可以增强对直接面向消费者的基因检测的伦理问题的理解，以及风险、诊断和遗传学的概念如何在这些背景下以及在当前医学和健康变革的背景下使用。结果将与更广泛的社区分享，以教育公民了解直接面向消费者的基因检测的监管以及利益相关者在联邦监管过程中的影响。该奖项反映了美国国家科学基金会的法定使命，并通过使用基金会的知识价值和更广泛的影响审查标准进行评估，被认为值得支持。

This project examines federal regulations regarding direct-to-consumer advertising of genetic testing. It asks two main questions: (1) How are US federal regulatory agencies like the Food and Drug administration categorizing, analyzing, and regulating direct-to-consumer genetic testing; and (2) What influence do other groups such as professional organizations, advocacy groups, and research institutes have on the regulation of direct-to-consumer genetics? While scholars have critically examined how genetic tests perpetuate certain identities and social categories, we know little about the processes by which genetic testing is being regulated. The present study advances our understanding of this issue in relation to three major trends occurring in biomedicine. These include a shift from genetic diagnosis to genetic risk, the redefinition of the patient as a consumer, and the de-medicalization of genetics. This project thus increases our scholarly understanding of direct-to-consumer genetic testing as it is unfolding within broader social and cultural transformations occurring in medicine and health. This is a multi-method social science investigation of factors shaping federal regulations regarding direct-to-consumer genetic testing. Primary data for the project come from archival documents, interviews, and participant observations. The main goal of the project is to understand how federal agencies conceptualize and regulate direct-to-consumer advertising of genetic tests, and the relative power of outside stakeholder groups to shape federal regulations surrounding commercial genetic testing. Undertaking this research enables an enhanced understanding of ethical issues surrounding direct-to-consumer genetic testing and of how the concepts of risk, diagnoses, and genetics are used in these contexts and in the context of current transformations in medicine and health. Results will be shared with the broader community to educate citizens about the regulation of direct-to-consumer genetic testing and about the influence of stakeholders in the federal regulatory process.This award reflects NSF's statutory mission and has been deemed worthy of support through evaluation using the Foundation's intellectual merit and broader impacts review criteria.