# Stanford Mendelian Genomics Research Center

> **NIH NIH U01** · STANFORD UNIVERSITY · 2024 · $154,400

## Abstract

PROJECT SUMMARY/ABSTRACT
 The GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) is an
NHGRI-funded research network that aims to develop and apply approaches to determine the genetic etiology
of rare, Mendelian conditions. Specific objectives include: 1) to shift the paradigm of rare disease diagnosis; 2)
to develop best practices for clinical translation; and 3) to create a dataset with broad utility. GREGoR seeks to
achieve these objectives through the development of new multi-omic technologies including transcriptomic,
metabolomic, epigenomic, and proteomic profiles. While GREGoR has been successful in generating multi-
omic data, the meaning, interpretation, and clinical implications of these data for individual patients remains
complex and uncertain, and currently there are no guidelines for return of Individual Research Results (IRRs)
specifically for multi-omics. While existing literature on genomic IRR is informative, it is insufficient to address
the many nuanced complexities and additional uncertainties that characterize multi-omic data. With the
growing volume of multi-omic research data, there is an urgent need for empirical bioethics research to support
development of guidelines for return of multi-omic IRR. Examples of key ethical questions include: How should
the validity of multi-omic IRR be determined? How should the risks of returning uncertain information be
weighed against potential benefits for participants? In the setting of limited resources, what is the appropriate
balance of effort on return of multi-omic IRR with achieving other scientific goals?
 To address these and other questions, we propose the following Aims: Aim 1: To identify the range of
ethical, legal, scientific, and pragmatic challenges to the return of multi-omic IRR to rare disease participants.
To achieve this Aim, we will conduct semi-structured interviews with a broad range of stakeholders both within
and outside of the GREGoR Consortium, including patient advocates, clinicians, scientists, genetic counselors,
legal experts, ethicists, and IRB members. Aim 2: To identify opportunities for the GREGoR Consortium to
address key challenges to multi-omic IRR. To achieve this Aim, we will create a draft conceptual map,
informed by ongoing Aim 1 interviews and the existing literature on return of genomic IRR, outlining challenges
to return of multi-omics IRR. We will then convene a facilitated workshop, in conjunction with an existing
GREGoR in-person meeting, to discuss approaches with GREGoR leaders, collaboratively elicit individuals’
perspectives on potential solutions, and identify opportunities for GREGoR address these challenges. The
long-term goal of this research is to develop and refine ethical and policy guidelines related to return of multi-
omic IRR and clinical translation of new multi-omic technologies.

## Key facts

- **NIH application ID:** 11063730
- **Project number:** 3U01HG011762-04S1
- **Recipient organization:** STANFORD UNIVERSITY
- **Principal Investigator:** Stephen Montgomery
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $154,400
- **Award type:** 3
- **Project period:** 2021-07-15 → 2026-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11063730

## Citation

> US National Institutes of Health, RePORTER application 11063730, Stanford Mendelian Genomics Research Center (3U01HG011762-04S1). Retrieved via AI Analytics 2026-08-01 from https://api.ai-analytics.org/grant/nih/11063730. Licensed CC0.

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