# Implementing and Evaluating Genetic Screening in Healthy Adults for Precision Public Health

> **NIH NIH R21** · UNIV OF NORTH CAROLINA CHAPEL HILL · 2022 · $420,769

## Abstract

Abstract
In the US, millions of people unknowingly carry pathogenic genetic variants for Lynch syndrome (LS),
Hereditary Breast and Ovarian Cancer (HBOC), and Familial Hypercholesterolemia (FH), which confer
substantially-elevated risks of serious yet preventable diseases. For these genetic conditions, guideline-
recommended preventive health services might reduce associated morbidity and mortality if knowledge of this
underlying genetic risk is available. However, more than half of these individuals remain unidentified or are
identified only after they or a significant number of relatives have been diagnosed with life-threatening
diseases. This represents a missed opportunity to prevent disease. For this reason, National Academies of
Sciences, Engineering and Medicine’s Genomics and Public Health Action Collaborative provided a roadmap
for population genetic screening programs to improve identification of individuals with these clinically
actionable conditions. Beginning June 2021, University of North Carolina (UNC) Program for Precision
Medicine in Healthcare is piloting a clinical offering for genetics-based screening for the genes associated with
LS, HBOC and FH, called the UNC Precision Health Genetic Screening Test. This clinical offering provides the
ideal opportunity to study the implementation of a genetics-based screen program in a healthy population. To
this end we propose to (1) examine implementation outcomes of the UNC Precision Health Genetic Screening
Test; (2) identify and tailor strategies for the implementation of UNC Precision Health Genetic Screening Test;
and (3) examine the impact of the UNC Precision Health Genetic Screening Test on patient outcomes. The
objective of this proposal is to better understand and learn from the implementation of the UNC Precision
Health Genetic Screening Test to inform implementation of precision health genetic screening in diverse, real-
world clinical settings. Further, these findings will directly inform the development of future hypotheses to test
the effect of the UNC Precision Health Genetic Screening Test on patient health outcomes and key
implementation outcomes through a future Type II Hybrid Effectiveness study. Through this line of research,
we can better understand the implementation and effectiveness of a genetics-based screening program. This
foundational understanding will inform future work to achieve the promise of precision health for all.

## Key facts

- **NIH application ID:** 10510602
- **Project number:** 1R21HG012672-01
- **Recipient organization:** UNIV OF NORTH CAROLINA CHAPEL HILL
- **Principal Investigator:** Megan C. Roberts
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $420,769
- **Award type:** 1
- **Project period:** 2022-09-01 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10510602

## Citation

> US National Institutes of Health, RePORTER application 10510602, Implementing and Evaluating Genetic Screening in Healthy Adults for Precision Public Health (1R21HG012672-01). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10510602. Licensed CC0.

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