# Advancing Equity in Rare Disease Genomics

> **NIH NIH R56** · BOSTON CHILDREN'S HOSPITAL · 2024 · $716,587

## Abstract

Project Summary
Genomic research presents a unique opportunity for molecular diagnosis of individuals with rare disease, which
may empower precision therapies to alleviate the individual and public health burden of these conditions.
However, minoritized populations remain underrepresented in rare disease genomic research, and optimal
strategies to address this lack of representation remain poorly understood. The consequences of these
knowledge gaps extend beyond the research realm and threaten the equitable provision of genomic medicine
services in clinical practice. This project takes the critical next step towards further understanding, and ultimately
breaking down, barriers to rare disease genomic research participation for historically underrepresented
populations, in a hybrid type 3 effectiveness-implementation study design informed by the RE-AIM (Reach,
Effectiveness, Adoption, Implementation, Maintenance) framework. A diversity, equity, and inclusion toolkit for
genomic researchers will be developed and implemented within the Broad Institute’s Rare Genomes Project
(Aim 1), with concurrent evaluation of multiple dimensions of effectiveness employing a mixed-methods
approach (Aims 2 and 3). In Aim 1, stakeholder interviews will be conducted with both rare disease genomic
research participants as well as providers who refer these participants to further explore barriers and facilitators
of research engagement, with specific attention to study logistics and inclusive practices. This qualitative analysis
will inform development and refinement of a toolkit comprising specific strategies portable to other environments
to improve diversity, equity, and inclusion. This toolkit will then be implemented within the Rare Genomes Project
in order to enroll a cohort of 200 participants who are historically underrepresented in rare disease genomic
research, with concurrent evaluation of the following implementation outcomes: Reach, as reflected in the
demographics of study participants; Adoption, as reflected in the characteristics of referring providers; and
Implementation fidelity, as reflected in the proportion of participants who complete the study process from
enrollment to sequencing. In Aim 2, Effectiveness of genome sequencing (GS) for this cohort of 200 participants
will be evaluated, reflected in diagnostic and clinical utility, with analysis taking into account the impact of social
and structural informants of health on these outcomes. In Aim 3, patient-centered utility of GS will be assessed
both in this cohort as well as a larger, diverse cohort of rare disease genomic research participants to better
assess longitudinal, multidimensional impact (Maintenance). This study will therefore generate utility data from
a diverse population that provides real-world guidance regarding equitable applications of GS for rare disease
diagnosis. Study results will inform strategies to improve access to GS and will identify key areas of clinical
impact in or...

## Key facts

- **NIH application ID:** 11135905
- **Project number:** 1R56HG013725-01
- **Recipient organization:** BOSTON CHILDREN'S HOSPITAL
- **Principal Investigator:** Monica Hsiung Wojcik
- **Activity code:** R56 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $716,587
- **Award type:** 1
- **Project period:** 2024-09-19 → 2025-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11135905

## Citation

> US National Institutes of Health, RePORTER application 11135905, Advancing Equity in Rare Disease Genomics (1R56HG013725-01). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/11135905. Licensed CC0.

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