# South-seq: DNA sequencing for newborn nurseries in the South

> **NIH NIH U01** · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · 2021 · $2,469,743

## Abstract

Project Summary
HudsonAlpha Institute for Biotechnology
The goal of this proposal is to use whole genome sequencing (WGS) to diagnose ill neonates of diverse
backgrounds in the Deep South, to increase patient and provider familiarity with genomic testing, and to
provide and evaluate resources to facilitate the expanded utilization of clinical genomic testing. This project
will be a collaboration between genomic researchers and educators at the HudsonAlpha Institute for
Biotechnology, clinicians and outcomes experts at the University of Alabama at Birmingham, clinicians at the
University of Mississippi Medical Center and Druid City Hospital, and investigators at the University of
Louisville interested in the ethical, legal, and social consequences of returning genetic results. 2,000 infants
with signs suggestive of a genetic disorder being treated at a neonatal intensive care unit (NICU) in which
African-American and rural populations are highly represented will be enrolled. WGS will be used to identify
pathogenic variation in DNA from these infants. Stakeholders, including parents, clinicians, and community
leaders, will be engaged to develop culturally adapted educational materials and to equip non-genetics
providers to return WGS results. Parents will be provided with these materials through a web portal, the
Genome Gateway, and will be placed into one of two arms of a randomized trial to compare the effectiveness
technology-assisted WGS result delivery by non-genetics providers relative to result delivery from genetic
counselors. A health care cost analysis will be conducted to compare children who received WGS relative to
comparator children who did not. The final aim will serve to disseminate study findings and gather feedback
from key stakeholders to promote uptake and broader access to clinical sequencing technologies. This study
will address discrepancies in participation in genomic research by diverse racial/ethnic groups and the need for
educational support to facilitate progress towards safer, more effective, and more equitably distributed genomic
medicine.
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## Key facts

- **NIH application ID:** 9934221
- **Project number:** 5U01HG007301-08
- **Recipient organization:** HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY
- **Principal Investigator:** Gregory Stefan Barsh
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $2,469,743
- **Award type:** 5
- **Project period:** 2013-06-14 → 2022-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9934221

## Citation

> US National Institutes of Health, RePORTER application 9934221, South-seq: DNA sequencing for newborn nurseries in the South (5U01HG007301-08). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9934221. Licensed CC0.

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