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

> **NIH NIH U01** · UNIVERSITY OF CALIFORNIA SANTA CRUZ · 2022 · $611,388

## Abstract

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 acr...

## Key facts

- **NIH application ID:** 10622227
- **Project number:** 3U01HG010971-04S1
- **Recipient organization:** UNIVERSITY OF CALIFORNIA SANTA CRUZ
- **Principal Investigator:** Evan Eichler
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $611,388
- **Award type:** 3
- **Project period:** 2019-09-18 → 2024-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10622227

## Citation

> US National Institutes of Health, RePORTER application 10622227, An "Embedded ELSI" Approach to the Creation of a Novel Human PanGenome Reference: Administrative Supplement to the Center for Human Reference Genome Diversity (3U01HG010971-04S1). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10622227. Licensed CC0.

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