# Understanding Disparities in Genomic Medicine

> **NIH NIH R21** · BOSTON CHILDREN'S HOSPITAL · 2022 · $221,250

## Abstract

Project Summary/Abstract
Advances in genomic sequencing and analysis techniques have enabled the molecular diagnosis
of many individuals and families with rare disease. Finding these diagnoses may pave the way to
better treatments or even cures, in addition to decreasing stress and empowering medical
decision-making. However, access to genomic sequencing has not been equitable which has led
to poor understanding of the genomic landscape of rare diseases and of the potential benefit of
genomic medicine in addition to limited insight into factors necessary consider in increasing
access. The Rare Genomes Project (RGP) was established at the Broad Institute in order to
facilitate genetic diagnosis using genome sequencing for individuals and families with rare
disease and has resulted in many diagnoses involving both established and novel disease genes.
Though RGP does allow for more access to genome sequencing than would otherwise be
possible through clinical routes, the RGP study participants have been overwhelmingly white,
well-resourced, and with high educational and household income status. This project seeks to
further expand access to genome sequencing through RGP to historically underserved and/or
minoritized populations in an innovative approach that directly targets barriers identified through
our theoretical framework in order to identify diagnoses for a diverse group of participants with
rare disease (Aim 1). We will also gain critical insight into the process and context of implementing
genomic medicine in underserved populations using outcomes measures derived from our
conceptual framework (Aim 2). Finally, we will also examine motivations for pursuing genome
sequencing and the impact of a genetic diagnosis in underserved/minoritized populations (Aim
3). Taken together, these results will inform future equitable approaches to incorporate genomic
medicine into clinical practice.

## Key facts

- **NIH application ID:** 10434318
- **Project number:** 1R21HG012397-01
- **Recipient organization:** BOSTON CHILDREN'S HOSPITAL
- **Principal Investigator:** Anne O'Donnell-Luria
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $221,250
- **Award type:** 1
- **Project period:** 2022-07-01 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10434318

## Citation

> US National Institutes of Health, RePORTER application 10434318, Understanding Disparities in Genomic Medicine (1R21HG012397-01). Retrieved via AI Analytics 2026-05-28 from https://api.ai-analytics.org/grant/nih/10434318. Licensed CC0.

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