Administrative Supplement: The Clinical Genome Resource - Advancing genomic medicine through biocuration and expert assessment of genes and variants at scale

项目摘要/摘要 在这份补充材料中，我们提出了两个不同的活动，重点是基因组学在 人口筛查。 我们将建立一个新的克莱根工作组，以制定一个证据框架，以告知 关于将哪些目标包括在未选定的人口筛查工作中的决策 人口。我们将利用克莱根的专业知识和完善的程序 可操作性工作组，包括最近为制定一个新的框架所作的努力 多基因风险评分(PRS)上下文。鉴于新兴群体的基因组筛选工作 在一些中心和卫生系统中，这一框架的发展是及时的。 并有必要就筛查应考虑的条件提供指导 包括可操作性和成本效益在内的关键因素。总体而言，这项工作将显著 在人口规模上促进基因组医学的发展，并提供 对广泛的最终用户的人口健康影响的循证评估。 本补编还要求为北卡罗来纳大学团队提供资金，以主办和监督2023年年度 NHGRI基因组医学司会议(GM XV)，计划和进行 由咨询委员会的基因组医学工作组提供。从历史上看，这些会议 及时处理基因组医学的主题，以确定该领域的研究方向 NHGRI。2023年会议的重点将是基因组学和人口筛查， 满足与评估科学现状相一致的目标，确定关键 挑战和机遇，并勾勒出研究议程。北卡罗来纳大学的克林根助学金很好- 考虑到我们与美国人的密切关系和分包合同，适合帮助计划这次会议 医学遗传学和基因组学学院(ACMG)，我们通过该学院进行了协调 数十次面对面、虚拟和混合式指导委员会会议和面对面会议 克莱根临床领域工作组和专家小组成员之间的合作。

PROJECT SUMMARY/ABSTRACT In this supplement, we propose two distinct activities focused on the use of genomics in population screening. We will establish a new ClinGen working group to develop an evidence framework to inform decision-making about which targets to include in population screening efforts in unselected populations. We will leverage the expertise and well-established procedures of the ClinGen Actionability Working Group, including recent efforts to develop a new framework for the polygenic risk score (PRS) context. Given that nascent population genomic screening efforts are already in underway in some centers and health systems, this framework development is timely and necessary to provide guidance on conditions that should be considered for screening based on key factors including actionability and cost effectiveness. Overall, this work will significantly contribute to the advancement of genomic medicine at the population scale and provide evidence-based assessments of population health impact for a broad range of end-users. This supplement also requests funds for the UNC team to host and oversee the 2023 annual meeting of the NHGRI Division of Genomic Medicine meeting (GM XV), planned and conducted by the Advisory Council’s Genomic Medicine Working Group. These meetings have historically addressed timely topics in genomic medicine to identify research directions for the field and for NHGRI. The focus of the 2023 meeting will be on genomics and population screening, with meeting objectives aligned with assessing the current state of the science, determining the key challenges and opportunities, and outlining a research agenda. The UNC ClinGen grant is well- suited to help plan this meeting given our close relationship and subcontract with the American College of Medical Genetics and Genomics (ACMG), through which we have coordinated dozens of in-person, virtual, and hybrid Steering Committee meetings and in-person meetings between members of ClinGen’s Clinical Domain Working Groups and Expert Panels.