The Sulston Project: making the knowledge commons for interpreting cancer genomic variants more effective

苏尔斯顿项目：使解释癌症基因组变异的知识共享更加有效

• 批准号: 9901477
• 负责人: Robert Mullan Cook-Deegan
• 金额: $ 56.33万
• 依托单位: ARIZONA STATE UNIVERSITY-TEMPE CAMPUS
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-04-01 至 2023-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9901477
• 关键词: Address; Advisory Committees; Attention; BRCA1 gene; BRCA2 gene; Bermuda; Cancer Biology; Case Study; Centers for Disease Control and Prevention (U.S.); Clinical; Committee Members; Congresses; DNA Sequence; Data; Data Sources; Databases; Development; Disincentive; Elements; Engineering; Ensure; Ethics; Face; Family; Foundations; Future; Genes; Genomic medicine; Genomics; Goals; Health Professional; High-Throughput Nucleotide Sequencing; Infrastructure; Inherited; Institution; Interview; Knowledge; Laboratories; Legal patent; Malignant Neoplasms; Maps; Medical; Medicine; Methods; Oncogenes; Partner in relationship; Pathway Analysis; Patients; Play; Policies; Policy Maker; Politics; Process; Productivity; Publications; Reporting; Research Personnel; Resources; Rights; Science; Scientific Advances and Accomplishments; Secrecy; Social Sciences; Source; Structure; Technology Assessment; Testing; Time; Translating; Translations; United States National Academy of Sciences; United States National Institutes of Health; Variant; Work; advocacy organizations; authority; base; cancer genomics; cancer risk; clinical care; clinically significant; cooking; data framework; data resource; data sharing; design; development policy; experience; genetic counselor; genetic variant; genome sciences; improved; innovation; large scale data; meetings; member; multidisciplinary; open data; precision medicine; risk variant; success; theories

PROJECT SUMMARY Efforts to create a cancer genomic commons are already underway, yet data sharing practices face daunting challenges. Ulti- mately, a genomic knowledge commons will only be successful if appropriate data-sharing policies that address disincentives for sharing and implementation challenges are developed and mapped onto the institutions and actors who can enact such change. In our previous work (McGuire R01HG006460), experts ranked data-sharing as the most important, yet least politically tractable policy challenge among 17 posed in a modified Delphi process. The objective of this proposal is to engage expert advisors and relevant stakeholders to identify and rank challenges, generate policy solutions, and translate findings into action in a specific domain poised to make progress, to ensure the success of a cancer genomic commons. Throughout the project, we will engage our expert multi-disciplinary advisory com- mittee to solicit their input. In Aim 1, we will conduct a historical case study of the knowledge commons that exists in cancer genomics, as well as identify alternative frameworks for data sharing practices. In Aim 2, we will analyze the case study and conduct qualitative interviews with stakeholders in relevant constituencies to identify and further examine the challenges identi- fied in Aim 1. In Aim 3, we will employ a policy Delphi process with advisory committee members to refine, rank, and generate solutions to key policy issues. In Aim 4, we will take the policy map from Aims 1-3 and tailor findings and policy options to specific target audiences, and present information in a form they can use. This contribution is significant because it addresses a pressing clinical need to interpret the clinical significance of genomic variants, and to build infrastructure and practices to advance scientific understanding of cancer genomics. It will provide information needed to structure a cancer genomic com- mons. A sustainable, effective commons is critical to the integration of genomic information in the management of inherited cancer risk, as well as advancing understanding of cancer biology. The approach is innovative by engaging a diverse and repre- sentative group of stakeholders, providing them with several sources of systematic empirical input to identify policy challenges, generate solutions and map those to the appropriate institutions and actors. It is also innovative in translating findings and options through systematic policy engagement. The work is feasible in our hands because our team of established investigators have expertise in ethical and policy issues related to large-scale data sharing and a track record of success working together on large collaborative projects addressing ethical and policy issues in genomics. Sulston Project: cancer genomic variant commons 22-line summary 1

项目摘要 创建癌症基因组共享的努力已经在进行中，但数据共享实践面临着艰巨的挑战。Ulti 然而，只有在适当的数据共享政策解决了阻碍基因组知识共享的因素时，基因组知识共享才能取得成功。 制定了分享和执行方面的挑战，并将其映射到能够实施这种变革的机构和行为体。 在我们之前的工作（McGuire R 01 HG 006460）中，专家们将数据共享列为最重要的，但在政治上最不容易处理的 政策挑战17提出了一个修改后的德尔菲过程。本建议的目的是聘请专家顾问和有关人员， 利益攸关方确定挑战并对其进行排序，制定政策解决方案，并将调查结果转化为准备取得进展的特定领域的行动， 来确保癌症基因组的成功。在整个项目中，我们将聘请我们的专家多学科咨询公司- 来征求他们的意见。在目标1中，我们将对癌症中存在的知识共享进行历史案例研究 基因组学，以及确定数据共享做法的替代框架。在目标2中，我们将分析案例研究， 与相关群体的利益攸关方进行定性访谈，以确定并进一步审查所面临的挑战， 在目标1中。在目标3中，我们将采用政策德尔菲过程，由咨询委员会成员进行细化、排名和生成 解决关键政策问题。在目标4中，我们将采用目标1-3的政策地图，并根据需要调整调查结果和政策选择， 具体目标受众，并以他们可以使用的形式提供信息。这一贡献是重要的，因为它解决了 迫切的临床需要解释基因组变异的临床意义，并建立基础设施和实践， 推进对癌症基因组学的科学理解。它将提供构建癌症基因组组合所需的信息， Mons.一个可持续的，有效的公地是至关重要的基因组信息的整合，在管理遗传 癌症风险，以及推进对癌症生物学的理解。该方法是创新的，通过参与多样化和代表性， 潜在的利益攸关方群体，为他们提供若干来源的系统性经验投入，以确定政策挑战， 制定解决方案，并将这些方案分配给适当的机构和行为体。它在翻译调查结果方面也很创新， 通过系统的政策参与。这项工作在我们手中是可行的，因为我们的调查团队 在与大规模数据共享相关的道德和政策问题上具有专业知识，并在以下方面取得了成功： 解决基因组学中的伦理和政策问题的大型合作项目。 Sulston项目：癌症基因组变异共有22行摘要1