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

项目总结 创建癌症基因组公地的努力已经在进行中，但数据共享实践面临着艰巨的挑战。多- 最重要的是，基因组知识共享只有在适当的数据共享政策解决阻碍 制定了分享和执行挑战，并将其映射到能够实施这种变革的机构和行为者身上。 在我们之前的工作(McGuire R01HG006460)中，专家将数据共享列为最重要的，但政治上最不容易处理的 在修改后的德尔福进程中，17人提出了政策挑战。这项提案的目标是聘请专家顾问和相关人员 利益相关者识别和排序挑战，生成政策解决方案，并将调查结果转化为准备取得进展的特定领域的行动， 以确保癌症基因组共享的成功。在整个项目中，我们将聘请我们的专家多学科咨询公司- 委员会征求他们的意见。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和 与相关选民中的利益相关者进行定性访谈，以确定并进一步审查存在的挑战- 在目标1中确定。在目标3中，我们将与咨询委员会成员一起使用策略德尔菲流程来细化、排序和生成 解决关键政策问题。在目标4中，我们将从目标1-3中提取政策地图，并调整结果和政策选项，以 具体的目标受众，并以他们可以使用的形式提供信息。这一贡献意义重大，因为它解决了 迫切需要解释基因组变异的临床意义，并建立基础设施和实践来 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所需的信息- 蒙斯。一个可持续、有效的公地对于在遗传管理中整合基因组信息是至关重要的 癌症风险，以及促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的 利益攸关方声明小组，为他们提供系统的经验投入的几个来源，以确定政策挑战， 生成解决方案，并将这些解决方案映射到适当的机构和参与者。它在翻译调查结果方面也是创新的， 通过系统的政策参与进行选择。这项工作在我们手中是可行的，因为我们的老牌调查团队 拥有与大规模数据共享相关的道德和政策问题方面的专业知识，并有共同努力的成功记录 大型合作项目，解决基因组学中的伦理和政策问题。 Sulston项目：癌症基因组变异共有22行摘要1

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