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

项目摘要/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 由此产生的限制性数据访问协议。长期目标是创造一个技术生态系统， 促进基因组研究的更开放的科学实践。其核心动机是相信公平和公平 通过简化对现有基因组的获取，可以加快基因组科学的进步步伐 数据，包括未得到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，并采用符号和面具技术。其基本原理是 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，签署 基因组数据，以使研究人员放心其来源和完整性，并掩盖这些部分 手头的分析不需要来自研究人员的数据，以确保参与者隐私。中环 激励将通过四个具体目标来实现：1)开发和评估一个基于 对数据进行基因组分析；2)设计并分析了一个掩蔽基因组的离线数字签名系统 数据；3)描述基因组数据生态系统的法律和监管背景的关键方面；4)分析 研究人员可能接受的保护和共享的新技术以及参与者的可用性 基因组数据。第一个目标是开发必要的技术，以便在电子计算机上进行基因组测试 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。 为个人保护其基因组数据的敏感部分，同时仍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和监管挑战 基因组研究的开放式科学方法。第四个目标将使用定性和定量的方法来 评估针对基因组学研究中开发的技术的接受度、影响和可用性 研究人员和非专业用户。本申请中提出的研究具有创新性，因为它结合了技术、 法律和社会科学方法论，以创建基因组学开放科学的框架，以表征 广泛采用这一框架必须克服的法律和政策挑战，以及 经验性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。这项拟议的研究具有重要意义，因为它将促进 通过提供未得到充分利用和更多样化的来源，实现基因组科学的快速发展 基因组数据，简化了获取潜在基因组数据来源的过程，同时确保其 完整性，并提供了一个新的框架，在其中可以提高基因组数据的安全性和私密性 对研究参与者来说。归根结底，这些知识有可能有助于采用开放 基因组研究中的科学实践。

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.