The convergence of rapid development of increasingly efficient high throughput genetic sequencing technologies and ubiquitous internet use by the public has laid the foundation for the emergence of direct-to-consumer (DTC) personal genomic companies. This growing market niche is premised on predictions of several paradigm shifts in how the public views personal genetic information. The first is a claim that knowledge of a person's genetic code is empowering and will enable individuals to make better decisions about lifestyle, health and medical care. The second is that a new era of "openness" challenges traditional approaches to genetic testing, requiring different ethical approaches towards public protection. And, the third is that in a context where large population based DNA collections are needed to fuel genomic research, industry will take a lead in "scaling-up" in collecting the genotypic and phenotypic information for large cohort genetic studies. As the validity of these assertions has yet to be fully explored and evaluated, the proposed study takes an empirical bioethics approach to provide insight into each of these claims. This study pursues this goal by addressing the current gap in empirical research of the perspectives and practices of two key stakeholders: consumers and industry leaders. Using qualitative methods, the proposed study will focus on the products and services offered by DTC personal genome company, 23andMe, Inc., to discover the social networks created through the sharing of personal genomic information, the perspectives of individuals within these networks on the meaning of personal genomic information, and the potential impact of social networks on the landscape of large scale genomic research of human traits and disease, in particular, the potential blurring of the boundary between consumer and research participant. To achieve these goals, this study will engage in network ethnography (Howard 2002) in pursuing a case study of a leading DTC personal genomic company and its customers. Using a combination of social network analysis and ethnographic methodologies, study will trace how and with whom individuals share their personal genomic information, to examine attitudes and perspectives among DTC consumers on sharing personal genomic information, and investigate how companies create online tools and forge strategic collaborations to facilitate sharing and networking around PGI.
The specific aims of this research are to: 1. Trace the life course of personal genomic information and map the social networks created through the sharing of direct-to-consumer genetic testing results. 2. Identify the motivations for sharing personal genomic information and the expectations, interpretation and application of personal genomic information among primary and secondary members of social networks, including family members, friends, health professionals and acquaintances, patient advocacy organization, and biomedical researchers. 3. Describe in ethnographic detail the development of online sharing infrastructure and 23andWe, a web-based tool to facilitate large scale genomic research among direct-to-consumer genomic customers. 4. Identify the technical, social and ethical implications of online sharing of personal genomic information and the participation of direct-to-consumer genomic consumers in direct-to-consumer company sponsored biomedical research. This research will provide a better understanding of the circulation of personal genomic information and consumer attitudes towards participating in online research communities and company sponsored research. By focusing on the development of online sharing tools as they emerge in the DTC personal genomic marketplace, this project may help to anticipate the ethical and social issues critical for sound regulatory guidance and police.
A serious challenge to efforts to fully understand the ethical and social implications of DTC personal genomics is a critical gap in empirical research on the perspectives and practices of two important stakeholder groups: the companies who provide genetic ancestry products and the individuals who consume them. This study examines how consumers share DTC personal genomic information online and create new research communities and their potential impact on large scale population based genomic research.
|Soo-Jin Lee, Sandra; Borgelt, Emily (2014) Protecting posted genes: social networking and the limits of GINA. Am J Bioeth 14:32-44|