# Utilizing Polygenic Risk to Understand and Improve Outcomes: A Model For Overturning Health Disparities Through Minority-Enriched Genomics Healthcare

> **NIH NIH U01** · CHILDREN'S HOSP OF PHILADELPHIA · 2022 · $1,743,696

## Abstract

ABSTRACT
This eMERGE-4 program is focused on generating and validating polygenic risk scores (PRS) for multiple
phenotypes using multiple available datasets across the eMERGE network, followed by a site-specific
implementation of PRS in 2,500 prospectively recruited patients we perform at The Children’s Hospital of
Philadelphia and University of Pennsylvania. To address health disparities and underrepresentation of African
Americans in genomic research, 75% (1,875) of participants will be of African ancestry. With capacity to pursue
many others, we propose five principal phenotypes: asthma, diabetes (T1D/T2D); autoimmune disease, Crohn’s
disease (CD); and hyperlipidemia with focus on coronary artery disease. Sensitivity, specificity, and clinical
efficacy/impact with respect to improved healthcare delivery will be measured. We will work with eMERGE
partners to develop a customized array that address inequities in traditional approaches, in particular, lack of
PRS data in minorities. We will establish an enriched recruitment, engagement, and retention protocol that will
include targeted recruitment, enhanced communication with participants and health care professionals, boosted
analysis and EHR integration, and a dynamic education program focusing on AAs with an aim to decrease
disparities in health by recruitment of minorities and improved health outcomes. The education program will be
informed by an empirical collaboration with Boston Children’s Hospital, where we will examine ethical, legal, and
social implications (ELSI) of return of genomic risk estimates, specifically differences in risk perception and
willingness to participate in risk reduction recommendations based on how risk is framed, disease severity, age
of onset, and actionability. Results will inform return of genomic risk estimates to all 2,500 participants, and
assess healthcare outcomes across the key disease areas proposed. We will work with the consortium to
delineate best practices for returning genomic risk estimates and create an innovative return of results protocol.
Finally, we will integrate PRS and genomic risk estimates with patients’ electronic health records by leveraging
Care Assistant, an innovative clinical decision support (CDS) framework developed at CHOP. We will create
CDS integrated with the CHOP EHR and provider education in MyResults. In a cluster-randomized design using
our primary-care research network, we will test the hypothesis that implementation of CDS will increase the
uptake of risk reduction recommendations by both patients and providers compared to current EHR integration
(EHRI).

## Key facts

- **NIH application ID:** 10489296
- **Project number:** 5U01HG011175-03
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** Hakon Hakonarson
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $1,743,696
- **Award type:** 5
- **Project period:** 2020-07-01 → 2025-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10489296

## Citation

> US National Institutes of Health, RePORTER application 10489296, Utilizing Polygenic Risk to Understand and Improve Outcomes: A Model For Overturning Health Disparities Through Minority-Enriched Genomics Healthcare (5U01HG011175-03). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10489296. Licensed CC0.

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