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.

人类参考基因组是遗传学中使用最广泛的资源， 了解最新情况它目前的结构是大约20个人基因组片段的线性组合，包含 差距，偏差和错误，并不允许全球基因组变异的流体表示。人类 Pangenome参考联盟（HPRC）旨在创造一个更复杂和完整的人类 参考基因组与基于图形的端粒到端粒的全球基因组多样性表示。为 这一努力是成功的，并对不同人群的需要作出反应，作为建立 作为基因组学的这一资源，新组建的“嵌入式ELSI”团队一直是基因组学的关键组成部分。 人权审查委员会促进公平、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， 以及研究伦理、法律、社会科学等相关学科的国际公认专家， 人口统计学、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、 加州，旧金山弗朗西斯科;鲍勃库克-迪根博士，亚利桑那州立大学;卡伦米加博士， 加州，圣克鲁斯;和Nanibaa' Garrison博士，加州大学，洛杉矶）和新成立的 人权和人民权利委员会-环境和社会责任司工作组成员通过参与常设工作，真实的向人权和人民权利委员会提供咨询意见 集团电话和集团范围的会议。这个嵌入式ELSI团队提供以下方面的指导 关注-预期的和未预期的-与同意程序、道德和科学选择有关 研究样本，社区的参与，以及将用于选择和 报告遗传多样性。我们正在建立伙伴关系和合作，同时积极寻求 社区参与和部落协商的机会， 社区知情的招募协议，如知情同意和样本人口描述。那里 迫切需要在HPRC内部建立额外的能力，以预测和应对ELSI问题。我们 “嵌入式ELSI”方法将继续建立基础知识库，政策基础设施， 战略伙伴关系，以作出基于证据的选择。其中包括样本选择，促进扩大 多样性和包容性努力，鼓励研究伙伴采用泛基因组参考 组织和临床遗传学实验室，并进一步加强长期ELSI能力， HPRC结构和系统。这一行政补充将支持建立一个严格和正式的 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主题进行研究，向HPRC调查人员报告我们的研究结果， 为联盟成功实现其目标提供循证指导。