An "Embedded ELSI" Approach to the Creation of a Novel Human PanGenome Reference: Administrative Supplement to the Center for Human Reference Genome Diversity

创建新型人类泛基因组参考的“嵌入式 ELSI”方法：人类参考基因组多样性中心的行政补充

• 批准号: 10622227
• 负责人: Evan Eichler
• 金额: $ 61.14万
• 依托单位: UNIVERSITY OF CALIFORNIA SANTA CRUZ
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-09-18 至 2024-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10622227
• 关键词: Address; Administrative Supplement; Adoption; Arizona; Attention; California; Clinical; Collaborations; Communities; Community Outreach; Complement; Consent; Consultations; Data Reporting; Decision Making; Demography; Descriptor; Discipline; Disease; Educational workshop; Ethics; FAIR principles; Foundations; Genes; Genetic; Genetic Variation; Genome; Genomics; Goals; Graph; Human Resources; Human Rights Abuses; Indigenous; Informed Consent; Infrastructure; International; Laboratories; Laws; Lead; Leadership; Liquid substance; Los Angeles; Maps; Medical Genetics; Persons; Policies; Population; Population Genetics; Population Heterogeneity; Procedures; Protocols documentation; Publications; Reporting; Research; Research Design; Research Ethics; Research Personnel; Resources; Sampling; Sampling Studies; San Francisco; Scholarship; Social Sciences; Structure; System; Technology; Time; Universities; Update; authority; base; community engagement; cooking; data sharing; diversity and inclusion; ethical legal social implication; evidence base; genomic variation; human pangenome; human reference genome; improved; innovation; knowledge base; meetings; member; novel; outreach; pan-genome; precision medicine; recruit; symposium; telomere; working group

PROJECT SUMMARY The human reference genome is the most widely used resource in genetics and is due for an update. Its current structure is a linear composite of genome segments from roughly 20 people, contains gaps, biases and errors, and does not allow for fluid representation of global genomic variation. The Human Pangenome Reference Consortium (HPRC) aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. For this effort to be successful and responsive to the needs of diverse populations as partners in the creation of this resource for genomics, the newly assembled ‘embedded ELSI’ team has been a critical component of the HPRC to facilitate decision-making that is equitable, respectful of ethical frameworks, laws, and cultural norms. Over the last year, the ELSI leadership team established the HPRC-ELSI working group by recruiting nationally and internationally recognized experts in relevant disciplines such as research ethics, law, social sciences, demography, population genetics, international data sharing, and Indigenous sovereignty. The ELSI leadership team (which consists of Dr. Alice Popejoy, University of California, Davis; Dr. Barbara Koenig, University of California, San Francisco; Dr. Bob Cook-Deegan, Arizona State University; Dr. Karen Miga, University of California, Santa Cruz; and Dr. Nanibaa’ Garrison, University of California, Los Angeles) and the newly formed HPRC-ELSI working group members advise the HPRC in real time through participation in standing working group calls and consortium-wide meetings. This embedded ELSI team provides guidance about concerns—both anticipated and unanticipated—related to consent procedures, ethical and scientific selection of study samples, engagement of communities, and definition(s) of diversity that will be used in selecting and reporting on genetic diversity. We are building partnerships and collaborations while actively pursuing opportunities for community engagement and tribal consultations, toward the goal of developing community-informed recruitment protocols such as informed consent and sample population descriptors. There is a critical need to build additional capacity within the HPRC to anticipate and respond to ELSI issues. Our ‘embedded ELSI’ approach will continue to build the foundational knowledge base, policy infrastructure, and strategic partnerships to make evidence-based choices. These include sample selection, facilitating expansion of diversity and inclusion efforts, encouraging adoption of the pangenome reference among research partner organizations and clinical genetics laboratories, and further enhancing long-term ELSI capacity within the HPRC structures and systems. This administrative supplement will support building a rigorous and formal embedded ELSI infrastructure to complement and enhance HPRC’s ongoing technical and scientific efforts. We aim to conduct research across a range of key ELSI topics, report our findings to HPRC investigators, and offer evidence-based guidance for the consortium to successfully achieve its goals.

项目摘要人类参考基因组是遗传学中使用最广泛的资源，应该 了解最新情况。它目前的结构是来自大约20个人的基因组片段的线性组合，包含 差距、偏见和错误，不允许流畅地表示全球基因组变异。《人类》 Pangenome Reference Consortium(HPRC)旨在创建一个更复杂、更完整的人类 参考基因组，以基于图形的、端粒到端粒的方式表示全球基因组多样性。为 这一努力是为了取得成功并满足不同人群的需求，作为创建 作为基因组学的这一资源，新组建的嵌入式ELSI团队一直是 HPRC促进公平、尊重道德框架、法律和文化规范的决策。 在过去的一年里，ELSI领导团队通过在全国范围内招募人员，建立了HPRC-ELSI工作组 和国际公认的研究伦理、法律、社会科学等相关学科的专家， 人口学、人口遗传学、国际数据共享和土著主权。ELSI领导层 团队(由加州大学戴维斯分校的Alice Popejoy博士和加州大学的Barbara Koenig博士组成 加州旧金山；Bob Cook-Deegan博士，亚利桑那州立大学；Karen Miga博士，加州大学 加州大学圣克鲁斯分校；以及加州大学洛杉矶分校纳尼巴·加里森博士)和新成立的 HPRC-ELSI工作组成员通过参与常备工作实时向HPRC提供建议 小组会议和财团范围内的会议。此嵌入式ELSI团队提供以下方面的指导 与同意程序、伦理和科学选择有关的关切--既有预料中的，也有预料之外的 研究样本、社区参与和多样性定义(S)，将用于选择和 报道遗传多样性。我们正在建立伙伴关系和合作关系，同时积极追求 社区参与和部落协商的机会，以实现发展的目标 社区知情招募协议，如知情同意和抽样人口描述指标。那里 迫切需要在HPRC内建立额外的能力，以预测和应对ELSI问题。我们的 “嵌入式ELSI”方法将继续构建基础知识库、政策基础设施和 战略伙伴关系，以做出以证据为基础的选择。这些措施包括样本选择，促进扩展 多样性和包容性努力，鼓励在研究伙伴中采用令人不快的参考 组织和临床遗传学实验室，并进一步加强长期ELSI能力 HPRC的结构和系统。本行政副刊将支持建立一个严谨和正式的 嵌入式ELSI基础设施，以补充和加强HPRC正在进行的技术和科学工作。 我们的目标是在一系列关键的ELSI主题上进行研究，向HPRC调查人员报告我们的发现，以及 为财团成功实现目标提供循证指导。