Social Networking and Personal Genomics: Emerging Issues for Health Research

描述(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。这一不断增长的利基市场的前提是预测公众看待个人基因信息的方式将发生几种范式转变。第一种说法是，对一个人的遗传密码的了解具有赋权作用，将使个人能够就生活方式、健康和医疗保健做出更好的决定。第二，“开放”的新时代对基因检测的传统方法提出了挑战，需要对公共保护采取不同的伦理方法。第三，在需要大量基于种群的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和表型信息方面发挥带头作用。由于这些断言的有效性尚未得到充分的探索和评估，拟议的研究采用了一种实证的生命伦理学方法来洞察每一种断言。这项研究通过解决目前在两个关键利益相关者：消费者和行业领导者的视角和实践的实证研究中的差距来追求这一目标。利用定性的方法，拟议的研究将集中在DTC个人基因组公司23andMe，Inc.提供的产品和服务，以发现通过共享个人基因组信息创建的社交网络，这些网络中的个人对个人基因组信息的意义的观点，以及社交网络对大规模人类特征和疾病基因组研究的潜在影响，特别是消费者和研究参与者之间的边界潜在模糊。为了实现这些目标，本研究将致力于网络人种学(Howard 2002)，对一家领先的DTC个人基因组公司及其客户进行案例研究。研究将结合社会网络分析和人种学方法，追踪个人如何以及与谁共享他们的个人基因组信息，调查DTC消费者对共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的共享和联网。本研究的具体目的是：1.追溯个人基因组信息的生命历程，并绘制通过共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，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。3.详细描述在线共享基础设施和23andWe的发展，23andWe是促进直接面向消费者的基因组客户进行大规模基因组研究的网络工具。4.确定在线共享个人基因组信息以及直接面向消费者的基因组消费者参与公司赞助的直接面向消费者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，当在线共享工具出现在DTC个人基因组市场时，该项目可能有助于预测对健全的监管指导和监管至关重要的伦理和社会问题。 公共卫生相关性：充分了解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，在对两个重要利益相关者群体的观点和做法进行实证研究方面存在严重差距：提供遗传祖先产品的公司和消费这些产品的个人。这项研究考察了消费者如何在网上分享DTC个人基因组信息和创建新的研究社区，以及它们对大规模基于人群的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.