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

基本信息

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
项目类别：
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

项目摘要

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.

项目概要/摘要人类泛基因组参考联盟 (HPRC) 旨在将人类参考基因组扩展到该项目预计将提供新的参考。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。 HPRC 正在部署新型第三代测序技术来生成高质量基因组然而，在生产规模上没有进行任何学术或金融投资。实现该目标所固有的道德、法律和社会影响 (ELSI) 将是本行政补充文件。将严格且正式的 ELSI 组件添加到 HPRC 正在进行的技术和科学工作中。来自相应学科的学者和专家参与了该项目的各个方面。直接响应 HPRC 科学顾问委员会提出的具体建议而制定 (SAB)，该机构于 2021 年 1 月指出，必须在早期阶段预见并解决 ELSI 问题 SAB 还认识到纳入该项目的重要性。从以前的人类群体遗传学备受瞩目的项目中汲取的经验教训，这些项目是可以完成的通过识别并回答 ELSI 问题作为项目中出现的关键决策点。的项目顾问，我们将创建一个“嵌入式 ELSI”团队，与 HPRC 领导层合作，研究人员作为 NHGRI 拨款 5U01-HG010971（David Haussler，UC，Santa Cruz，PI）的补充。拟议的工作在原始项目目标的范围内；但是，本补充将有助于澄清该项目的目标涉及人类基因组多样性的代表性，并将努力克服反映广泛人类多样性的参考基因组的开发引起了人们的担忧。 ELSI 团队将由四位经验丰富的首席研究员领导：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）和一名联合研究员指导团队的研究计划，Alice Popejoy（加州大学戴维斯分校）为了实现其总体目标，团队将召集由相关学科的其他专家组成的道德工作组 (EWG)，该工作组将专家工作组将召开会议，涵盖研究伦理、法律、社会科学、人口统计学和群体遗传学。定期为期一年，通过参与站立工作向 HPRC 团队实时提供建议小组召开电话会议，并将就与同意相关的预期和意外的担忧提供指导程序、研究样本的道德和科学选择、社区的参与以及定义用于选择和报告遗传多样性的多样性它将清点正在进行的并行项目。全球范围内，并将为后续研讨会准备一系列主题和背景材料。 EWG 将全面审查 ELSI 关注的问题，报告审议情况，并就以下方面提出建议：扩大参考基因组中人类多样性的策略，这是精确临床变异的关键目标解释和群体遗传学研究。