# Supporting Precision Medicine for Maternal and Pediatric Care through Pharmacogenomics Research

> **NIH NIH P50** · VANDERBILT UNIVERSITY MEDICAL CENTER · 2022 · $359,899

## Abstract

PROJECT SUMMARY / ABSTRACT - PROJECT 1
The field of pharmacogenomics has progressed from the discovery of genetic variants that cause variable
function of drug metabolism enzymes to a cornerstone of clinical precision medicine. However, there are
limited data supporting drug-gene associations for children and for women during and after pregnancy. The
unique physiology of childhood and pregnancy demand validation of pharmacogenomic signals prior to clinical
implementation. These knowledge gaps are compounded for individuals from minority populations, who have
been underrepresented and thus underserved by genomic research and specifically pharmacogenomic
studies. The primary objective of this project is to advance research and support clinical implementation in
pharmacogenomics for children and pregnant women. Our work will use a community engaged approach to: 1)
illuminate knowledge of, attitudes about, and priorities for pharmacogenomics; 2) validate pharmacogenomic
associations for pediatric and maternal populations using the innovative and generalizable strategy of
electronic health records phenotyping; 3) identify and quantify variants with unknown functional consequence
in diverse individuals in order to inform future research efforts and reduce disparities. Aim 1 will assess the
knowledge and attitudes regarding pharmacogenomic testing among diverse cohorts of children with chronic
disease and pregnant women, before and after receiving pharmacogenomic test results. This aim will begin
with a Community Engagement Studio to identify strategies to facilitate and enhance inclusion of children with
chronic health conditions, pregnant women, minorities, and those with disabilities in pharmacogenomic
research. We will then perform surveys before and after pharmacogenomic testing and return of results. Aim 2
will leverage our large biobank resource to validate high-frequency drug-gene interactions in women and
children to enable evidence-based clinical implementation for these populations and identify novel signals for
further study. This aim will generate electronic health records phenotyping methods and tools to efficiently
complete the aim and facilitate future research at our site and others. Aim 3 will identify and quantify genetic
variants of unknown function in pharmacogenomic genes among children and pregnant women in a diverse
cohort of biobank participants, informing the spectrum of genomic diversity requiring characterization. Overall,
accomplishing these aims will address critical knowledge deficits for precision therapeutics for pediatric and
maternal populations.

## Key facts

- **NIH application ID:** 10480927
- **Project number:** 5P50HD106446-02
- **Recipient organization:** VANDERBILT UNIVERSITY MEDICAL CENTER
- **Principal Investigator:** Digna R Velez Edwards
- **Activity code:** P50 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $359,899
- **Award type:** 5
- **Project period:** 2021-09-10 → 2026-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10480927

## Citation

> US National Institutes of Health, RePORTER application 10480927, Supporting Precision Medicine for Maternal and Pediatric Care through Pharmacogenomics Research (5P50HD106446-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10480927. Licensed CC0.

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