Managing Incidental Findings and Research Results in Genomic Biobanks and Archive

描述(申请人提供)：这项为期两年的续展项目建立在我们之前的NHGRI资助项目“管理人类受试者研究中的偶然发现”(#1 R01 HG003178-01A1)的基础上。以该项目的成果为基础，我们现在提出一个为期两年的更新项目，以解决基因组研究面临的最紧迫的问题之一：关于偶然发现(IF)和个人研究结果(IRR)的信息，如果有的话，应该向其DNA和数据被收集并存储在基因组生物库和存档数据集中的个人提供什么信息？我们将召集一个多学科工作组，以制定关于利用生物库和大型档案管理基因组研究中的综合框架和内部收益率的规范性协商一致建议。该项目有10个组成部分：(1)确定美国生物库(在本项目中的定义包括用于重新分析的数据集和DNA样本)和可用的网站；(2)收集相关文献、指南、法律和法规，包括关于生物库管理的国际指南和声明；(3)生物库网站的收集和内容分析(包括政策声明、同意书、常见问题解答和其他信息性材料)，以分析信息共享和返回IRR的方法；(4)通过向已确定的生物库的管理者或主管发送电子邮件对相关文件进行收集和内容分析，包括那些没有或没有提供信息的网站；(5)主要国际(非美国)网站相关非美文献的收集和内容分析生物库拥有英文网站，并通过电子邮件发送给每个生物库的经理或主管；(6)制定规范性共识建议，就如何处理基因组生物库研究中的IF和IRR返还问题提供指导，并征求反馈意见；(7)对这一问题和法律问题进行有针对性的分析的作者；(8)在公开会议上提出共识建议和有针对性的分析以获得反馈；(9)作为专题讨论会在一家著名期刊上发表；以及(10)开发一个公开网站，其中包括生物库、其伦理监督机构、机构间研究机构、研究人员、研究参与者、学者和其他有关管理独立报告制度和退还内部收益率的工具，包括带有网络链接的带注释的参考书目。为实现这一目标，该项目将涉及3种方法：(A)在涉及生物库和存档样本和数据的基因组研究中，就如何管理综合财务报告系统和内部收益率达成共识的规范进程，并得到(B)系统收集相关文献、指导文件、法规和法律的实证和分析研究的支持，并对以下内容进行结构化内容分析：(A)生物库网站上公开提供的政策、信息和同意文件，以及(B)通过电子邮件查询从生物库经理和董事那里收集的额外文件，以及(C)主要DNA生物库与以英语为母语的网站之间关于返回综合财务报告系统和内部收益率的政策的国际比较。

DESCRIPTION (provided by applicant): This 2-year renewal project builds on our previous NHGRI-funded project on "Managing Incidental Findings in Human Subjects Research" (#1 R01 HG003178-01A1). Using that project's outcomes as a foundation, we now propose a 2-year renewal project to address one of the most pressing issues facing genomic research: What information, if any, about incidental findings (IFs) and individual research results (IRRs) should be offered back to the individuals whose DNA and data are collected and housed in genomic biobanks and archived datasets? We will convene a multidisciplinary Working Group in order to develop normative consensus recommendations on managing IFs and IRRs in genomic research using biobanks and large archives. There are 10 components to this project: (1) identification of U.S. biobanks (defined in this project to include datasets and DNA samples archived for reanalysis) and websites where available; (2) collection of the relevant literature, guidelines, law, and regulations, including international guidelines and statements on biobank management; (3) collection and content analysis of biobank websites (including policy statements, consent forms, FAQs answers, and other informative material) to analyze approaches to IFs and return of IRRs; (4) collection and content analysis of relevant documents by emailing the manager or director of biobanks identified, including those with no or uninformative websites; (5) collection and content analysis of relevant non-U.S. documents from the websites of major international (non-U.S.) biobanks with websites in English and by email to the manager or director of each biobank; (6) development of normative consensus recommendations providing guidance on how to handle IFs and return of IRRs in genomic biobank research and soliciting feedback; (7) authorship of targeted analyses of this problem and the legal aspects; (8) presentation of consensus recommendations and targeted analyses at a public conference for feedback; (9) publication as a symposium in a prominent journal; and (10) development of a publicly available website containing tools for biobanks, their ethics oversight bodies, IRBs, researchers, research participants, scholars, and others on managing IFs and return of IRRs, including an annotated bibliography with web links. To accomplish this, the project will involve 3 methodologies: (A) a normative process to reach consensus on how IFs and IRRs should be managed in genomic research involving biobanks and archived samples and data, supported by (B) empirical and analytic research systematically collecting the relevant literature, guidance documents, regulations, and law, with structured content analysis of (a) the policy, informational, and consent documents publicly available on biobank websites, and (b) additional documents collected by email query from biobank managers and directors, and (C) international comparison of the policies on return of IFs and IRRs among major DNA biobanks with English-speaking websites.