GPing: Informatics for Personal Control of Genomic Data

描述（由申请人提供）： 如果没有大规模的人群研究，人类基因组计划和个性化基因组医学的承诺将在很大程度上无法实现。来自各种背景的足够多的个体参加队列研究将成为许多基因组翻译发现的基石。对隐私、数据安全和披露的担忧是产生大规模和可持续的基因组和临床注释群体的可预见障碍之一。让患者控制其健康数据的使用，将为利用我们人民的志愿精神和收集研究数据提供一个切实可行的机制。我们正在建议延长一个长期的，领先的，国家医学图书馆资助的项目在个人控制的健康记录系统（PCHR），PING（个人互联网公证人和监护人）项目，以解决管理和交流个人基因组数据的挑战。我们称之为基因组PING（GPING）项目。G-PING需要以下具体目标：1：构建基因组PING（G-PING），用于管理原始和处理后的基因组数据。2.建立患者及其亲属的定量风险模型。3：设计和评估用户界面，以传达披露信息。与适当的非歧视立法相一致，G-PING为大规模基因组队列研究奠定了基础。

DESCRIPTION (provided by applicant): Without large population studies, the promise of the Human Genome project and personalized genomic medicine will remain unfulfilled in significant ways. Sufficiently large numbers of individuals from a wide variety of backgrounds enrolled in cohort studies are going to be the keystone of many of the genomic translational discoveries. Concerns about privacy, data security and disclosure are among the predictable obstacles to the generation of large and sustainable genomically and clinically annotated cohorts. Giving patients control of the use of their health data will provide a practical mechanism for harnessing the volunteerism of our populations and gathering research data. We are proposing an extension of a longstanding, leading, National Library of Medicine-funded project in Personally Controlled Health Records systems (PCHR's), the PING (Personal Internetworked Notary and Guardian) project to address the challenges of curating and communicating personal genomic data. We call this the Genomic PING (GPING) project. G-PING entails the following specific aims: 1: Construct Genomic PING (G-PING) for managing raw and processed genomic data. 2: Develop quanitative risk models for patients and their relatives. 3: Design and evaluate a user interface to communicate disclosure. In concert with appropriate non-discrimination legislation, G-PING lays the groundwork for large-scale genomic cohort studies.