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口研究，人类基因组计划和个性化基因组医学的前景将在很大程度上无法实现。在队列研究中登记的来自不同背景的足够大量的个人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和临床注释队列的可预见的障碍之一。让患者控制他们的健康数据的使用将为利用我们人口的志愿精神和收集研究数据提供一个实用的机制。我们正在提议扩展一个由国家医学图书馆资助的长期领先的个人控制健康记录系统(PCHR)项目，即PING(个人联网公证和监护人)项目，以应对管理和传递个人基因组数据的挑战。我们称之为基因组ping(GPING)计划。G-ping的具体目标如下：1：构建基因组ping(G-ping)，用于管理原始和加工的基因组数据。2：为患者及其亲属建立定量的风险模型。3：设计和评估用户界面以传达信息披露。在适当的非歧视立法的配合下，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.