ELSI Administrative Supplement - Center for Human Reference Genome Diversity

ELSI 行政补充 - 人类参考基因组多样性中心

• 批准号: 10423448
• 负责人: Evan Eichler
• 金额: $ 24.62万
• 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/10423448
• 关键词: Address; Administrative Supplement; Affect; Agreement; Arizona; Back; Biomedical Research; Budgets; Clinical; Collaborations; Collection; Communities; Consent; Counseling; Demographer; Demography; Development; Diploidy; Discipline; Educational workshop; Equipment and supply inventories; Ethics; Feedback; Fostering; Future; Gene Frequency; Genetic; Genetic Diseases; Genetic Research; Genetic Variation; Genome; Genomic medicine; Genomics; Goals; Government; Grant; Health; Human; Human Genetics; Human Resources; Indigenous; Individual; Institutes; Investments; Laws; Leadership; Legal; Measures; Medical Genetics; Modeling; Morals; National Human Genome Research Institute; Participant; Population; Population Genetics; Population Heterogeneity; Precision Health; Principal Investigator; Procedures; Production; Public Health; Recommendation; Reference Standards; Reporting; Research; Research Ethics; Research Personnel; Resources; Sampling; Sampling Studies; Scholarship; Scientist; Social Sciences; Societies; Technology; Third Generation Sequencing; Time; Trust; Update; Variant; Work; adjudicate; community engagement; cooking; data sharing; design; ethical legal social implication; expectation; experience; genomic data; human pangenome; human population genetics; human reference genome; interest; meetings; member; novel; precision medicine; recruit; reference genome; response; shared decision making; social; social implication; success; telomere; working group

PROJECT SUMMARY / ABSTRACT The Human Pangenome Reference Consortium (HPRC) aims to expand the human reference genome to include individuals from globally diverse backgrounds. This project is expected to provide a new reference resource for human genetics and biomedicine that better represents global human genomic diversity. The HPRC is deploying novel third generation sequencing technologies to generate high quality genomes telomere-to-telomere at production scale. Yet, there was no scholarly or financial investment made in the ethical, legal, and social implications (ELSI) inherent in achieving that goal. This administrative supplement will add a rigorous and formal ELSI component to HPRC’s ongoing technical and scientific efforts. It will embed scholars and experts from the appropriate disciplines into every aspect of the project. This proposal was developed in direct response to specific recommendations made by the HPRC’s Scientific Advisory Board (SAB), which noted in January 2021 that ELSI issues must be anticipated and addressed in the early stages of the project, to foster trust and promote inclusion. The SAB also recognized the importance of incorporating lessons learned from previous high-profile projects in human population genetics, which can be accomplished by identifying and responding to ELSI questions as key decision points emerge in the project. Building on initial efforts of project advisors, we will create an “embedded ELSI” team to work with the HPRC leadership and investigators as a supplement to NHGRI grant 5U01-HG010971 (David Haussler, UC, Santa Cruz, PI). The proposed work is within the scope of the original project aims; however, this supplement will help clarify the objectives of the project with regard to representation of human genomic diversity and will work to overcome concerns raised by the development of a reference genome that reflects a broad range of human diversity. The ELSI team will be led by four experienced principal investigators: Barbara Koenig (UCSF), Robert Cook-Deegan (Arizona State), Nanibaa’ Garrison (UCLA), Karen Miga (UC Santa Cruz), and a Co-Investigator to direct the team’s research initiatives, Alice Popejoy (UC Davis). To accomplish its overarching objectives, the team will convene an Ethics Working Group (EWG) with additional experts in relevant disciplines, which will include research ethics, law, social sciences, demography, and population genetics. The EWG will meet regularly for one year, offering the HPRC team advice in real time through participation in standing working group calls and will provide 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 to be used selecting and reporting on genetic diversity. It will inventory parallel projects going on globally, and it will prepare a list of topics and background materials for a subsequent workshop. Finally, the EWG will review the full range of ELSI concerns, report on deliberations, and offer recommendations about strategies to expand human diversity in reference genomes, a critical goal in both accurate clinical variant interpretation and population genetics research.

项目总结/摘要 人类泛基因组参考联盟（HPRC）旨在扩大人类参考基因组， 包括来自全球不同背景个人。本项目有望提供一个新的参考 人类遗传学和生物医学资源，更好地代表全球人类基因组多样性。的 HPRC正在部署新的第三代测序技术，以生成高质量的基因组 端粒到端粒的比例。然而，没有学术或财政投资， 伦理，法律的，和社会影响（ELSI）在实现这一目标的内在。这一行政补充将 为HPRC正在进行的技术和科学工作增加一个严格和正式的ELSI组成部分。它将嵌入 来自相关学科的学者和专家参与项目的各个方面。这一提议遭到 直接响应HPRC科学顾问委员会提出的具体建议而制定 (SAB)，该组织在2021年1月指出，必须在早期阶段预测和解决ELSI问题， 项目，以促进信任和促进包容。审计委员会还认识到， 从以前的人类群体遗传学高调项目中吸取的经验教训， 通过识别和响应ELSI问题作为项目中出现的关键决策点。基于初始 在项目顾问的努力下，我们将创建一个“嵌入式ELSI”团队，与HPRC领导层合作， 研究者作为NHGRI资助5 U 01-HG 010971的补充（大卫豪斯勒，加州大学，圣克鲁斯，PI）。的 拟议的工作在原项目目标的范围内;然而，本补充材料将有助于澄清 该项目的目标是关于人类基因组多样性的代表性，并将努力克服 开发反映广泛人类多样性的参考基因组引起的关切。的 ELSI团队将由四位经验丰富的主要研究者领导：Barbara Koenig（UCSF），Robert Cook-Deegan（亚利桑那州立大学）、Nanibaa' Garrison（加州大学洛杉矶分校）、Karen Miga（加州大学圣克鲁斯分校）和一名合作研究者 指导团队的研究计划，爱丽丝波普乔伊（加州大学戴维斯分校）。为了实现其总体目标， 工作组将召集一个道德工作组（EWG），由相关学科的其他专家组成， 包括研究伦理、法律、社会科学、人口学和人口遗传学。EWG将与 定期一年，通过参与常设工作，为HPRC团队提供真实的建议 小组电话，并将提供关于与同意有关的预期和意外问题的指导 程序、研究样本的伦理和科学选择、社区参与以及 选择和报告遗传多样性。它将盘点正在进行的并行项目 它将为下一次讲习班编写一份议题清单和背景材料。最后 EWG将全面审查ELSI问题，报告审议情况，并提出以下建议： 扩大人类参考基因组多样性的战略，这是准确的临床变异 人口遗传学研究。