Social Networking and Personal Genomics: Emerging Issues for Health Research

描述（由申请人提供）：日益高效的高通量基因测序技术的快速发展和公众无处不在的互联网使用的融合为直接面向消费者（DTC）的个人基因组公司的出现奠定了基础。这个不断增长的市场利基是基于公众如何看待个人遗传信息的几个范式转变的预测。第一种观点认为，了解一个人的遗传密码可以增强能力，使个人能够在生活方式、健康和医疗保健方面做出更好的决定。其次，“开放”的新时代对传统的基因检测方法提出了挑战，需要不同的道德方法来实现公共保护。第三，在需要大量基于人群的DNA收集来推动基因组研究的背景下，工业界将在为大型队列遗传研究收集基因型和表型信息方面发挥带头作用。由于这些主张的有效性尚未得到充分的探讨和评估，拟议的研究采取了经验主义的生物伦理学方法，以提供深入了解这些索赔。 本研究追求这一目标，解决目前的差距，实证研究的角度和做法的两个关键利益相关者：消费者和行业领导者。使用定性方法，拟议的研究将集中在DTC个人基因组公司，23andMe，Inc.，发现通过共享个人基因组信息而创建的社交网络，这些网络中的个人对个人基因组信息的意义的观点，以及社交网络对人类特征和疾病的大规模基因组研究前景的潜在影响，特别是消费者和研究参与者之间的边界的潜在模糊。 为了实现这些目标，本研究将从事网络民族志（霍华德2002年）在追求一个领先的DTC个人基因组公司及其客户的案例研究。使用社交网络分析和人种学方法相结合，研究将追踪个人如何以及与谁分享他们的个人基因组信息，研究DTC消费者对分享个人基因组信息的态度和观点，并调查公司如何创建在线工具和建立战略合作，以促进围绕PGI的分享和网络。本研究的具体目的是：1.追踪个人基因组信息的生命历程，绘制通过分享直接面向消费者的基因检测结果而创建的社交网络。2.确定在社交网络的主要和次要成员（包括家庭成员、朋友、卫生专业人员和熟人、患者倡导组织和生物医学研究人员）之间共享个人基因组信息的动机以及对个人基因组信息的期望、解释和应用。3.以人种学的方式详细描述在线共享基础设施和23andWe的发展，23andWe是一种基于网络的工具，旨在促进直接面向消费者的基因组客户的大规模基因组研究。4.确定个人基因组信息的在线共享以及直接面向消费者的基因组消费者参与直接面向消费者的公司赞助的生物医学研究的技术，社会和伦理影响。 这项研究将更好地了解个人基因组信息的流通以及消费者对参与在线研究社区和公司赞助研究的态度。通过专注于在线共享工具的开发，因为它们出现在DTC个人基因组市场，该项目可能有助于预测道德和社会问题的关键健全的监管指导和警察。 公共卫生相关性：充分理解DTC个人基因组学的伦理和社会影响的努力面临的一个严重挑战是对两个重要利益相关者群体的观点和实践进行实证研究的关键差距：提供遗传祖先产品的公司和消费它们的个人。本研究探讨了消费者如何在线共享DTC个人基因组信息，并创建新的研究社区及其对大规模人群基因组研究的潜在影响。

DESCRIPTION (provided by applicant): 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. PUBLIC HEALTH RELEVANCE: 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.