A Sociotechnical Approach to Improving Security and Privacy in the Genomic Data Ecosystem

项目概要/摘要 基因组学开放科学的梦想受到了对基因组数据重新识别和 从而导致限制性数据访问协议。长期目标是创建一个技术生态系统， 为基因组研究提供更开放的科学实践。核心动机是相信， 基因组科学的进步步伐可以通过简化现有基因组的获取来加快， 数据，包括未充分利用的直接面向消费者的基因组数据，通过两种技术的组合： 对参与者存储的数据进行基因组分析，并采用标记和掩码技术。的理由 对于这个项目来说，这些技术通过创建一个 在研究人员和已经拥有自己基因组数据的潜在参与者之间架起一座桥梁， 基因组数据，以重新保证其来源和完整性的研究人员，并掩盖这些部分的 研究人员手头的分析不需要的数据，以确保参与者的隐私。中央 激励将通过四个具体目标来追求：1）开发和评估一个基于 2）设计并分析了一个离线数字签名系统，用于屏蔽基因组数据的分析 数据; 3）描述基因组数据生态系统的法律的和监管环境的关键方面; 4）分析 研究人员可能接受新技术，参与者可能使用新技术进行保护和共享 基因组数据第一个目标是开发必要的技术，用于进行“计算机”基因组测试， 个人的台式计算机或智能手机。第二个目标是开发必要的技术 个人保护其基因组数据的敏感部分，同时仍然提供有用的完整性保证， 研究人员第三个目标将确定和描述所面临的重大法律的和监管挑战 基因组研究的开放科学方法。第四个目标将使用定性和定量方法， 评估针对基因组学研究开发的技术的可接受性、影响和可用性 研究人员和用户。本申请中提出的研究是创新的，因为它结合了技术， 法律的和社会科学的方法，以创建一个框架，开放科学的基因组学， 这一框架的广泛采用必须克服的法律的和政策挑战， 经验性地评估如何使这些技术对研究人员最有用，同时 保护研究参与者的权利。这项研究很重要，因为它将促进更多的 通过提供未充分利用和更多样化的基因资源， 基因组数据，简化获得基因组数据的潜在来源的过程，同时确保其 完整性，并提供一个新的框架，在其中可以增加基因组数据的安全性和隐私性 对于研究参与者。最终，这些知识有可能有助于采用开放的 基因组研究的科学实践。

PROJECT SUMMARY/ABSTRACT The dream of open science for genomics is hindered by concerns about genomic data re-identification and the resulting restrictive data access protocols. The long-term goal is to create a technical ecosystem that can facilitate more open scientific practices for genomic research. The central motivation is the belief that both equity and the pace of advancement of genomic science could be increased by easing access to existing genomic data, including underutilized direct-to-consumer genomic data, through a combination of two technologies: bringing genomic analysis to participant-stored data and the adoption of sign and mask technology. The rationale for this project is that these technologies greatly facilitate the recruitment of research participants by creating a bridge between researchers and potential participants who already possess their own genomic data, signing that genomic data to re-assure researchers about its provenance and integrity, and masking those portions of the data that are not required for the analysis at hand from researchers to ensure participant privacy. The central motivation will be pursued through four specific aims: 1) Develop and evaluate a framework based on bringing genomic analysis to the data; 2) Design and analyze an offline digital signature system for masked genomic data; 3) Characterize key aspects of the legal and regulatory context for the genomic data ecosystem; 4) Analyze the likely acceptance by researchers and usability by participants of new technologies for protecting and sharing genomic data. The first aim will develop the technologies necessary for carrying out “in-silico” genome tests on the desktop computers or smartphones of individuals. The second aim will develop the technologies necessary for individuals to protect sensitive parts of their genomic data while still providing useful integrity assurances to researchers. The third aim will identify and characterize the significant legal and regulatory challenges that face an open science approach to genomic research. The fourth aim will use qualitative and quantitative methods to assess the acceptance, impact, and usability of the technologies developed in studies targeting genomics researchers and lay users. The research proposed in this application is innovative because it combines technical, legal, and social scientific methodologies to create a framework for open science in genomics, to characterize the legal and policy challenges that must be overcome for this framework’s widespread adoption, and to empirically assess how these technologies can be made most useful for researchers while simultaneously protecting the rights of research participants. The proposed research is significant because it will facilitate more rapid advancement for genomic science by providing access to underutilized and more diverse sources of genomic data, streamline the process of gaining access to potential sources of genomic data while ensuring its integrity, and provide a new framework within which the security and privacy of genomic data can be increased for research participants. Ultimately, such knowledge has the potential to contribute to the adoption of open science practices in genomic research.