# North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2

> **NIH NIH U01** · UNIV OF NORTH CAROLINA CHAPEL HILL · 2020 · $2,748,319

## Abstract

Project Summary/Abstract
Rapid development of genome sequencing technology has led to dramatic increases in the discovery of the
genetic causes of many rare disorders and has transformed our ability to diagnose and treat genetic
conditions. In particular, whole exome sequencing (WES) has proven to be a highly successful diagnostic
modality in patients with conditions having a high degree of genetic heterogeneity. As part of the Clinical
Sequencing Exploratory Research (CSER) consortium, UNC's project, “North Carolina Clinical Genomic
Evaluation by Next-gen Exome Sequencing” (NCGENES) addressed several key issues in the clinical
application of exome sequencing, including the diagnostic yield when applying WES in diverse clinical
scenarios, optimal approaches to dealing with secondary findings, the informed consent process, and
responses of patients and families to genomic information. Due in part to the success of the CSER program,
WES has become widely clinically available. However, before it can be widely implemented payers will need to
be convinced to routinely cover the use of WES; thus, critical questions must be addressed regarding its
clinical utility. The current renewal, NCGENES 2, will provide this necessary evidence base by bringing
together a highly inter-disciplinary team to conduct a randomized clinical trial to study healthcare outcomes and
communication among patients, family members, clinicians, and laboratorians. Moreover, NCGENES 2 will
address these issues in traditionally disadvantaged populations to ensure that the benefits of genomic
medicine will accrue to the broadest possible segment of the population. Each aim of NCGENES 2 will
address specific outcomes that are highly relevant to the real-world implementation of clinical exome
sequencing: 1) technical and analytic outcomes, 2) patient-centered outcomes, 3) clinical outcomes, and 4)
societal outcomes, including economic implications. Ultimately, NCGENES 2 will generate the necessary
evidence to support the use of WES as a standard tool in the management of patients with genetic disorders
and enable its implementation in populations that experience health disparities.

## Key facts

- **NIH application ID:** 9949743
- **Project number:** 5U01HG006487-08
- **Recipient organization:** UNIV OF NORTH CAROLINA CHAPEL HILL
- **Principal Investigator:** JONATHAN S BERG
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $2,748,319
- **Award type:** 5
- **Project period:** 2011-12-05 → 2022-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9949743

## Citation

> US National Institutes of Health, RePORTER application 9949743, North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing 2 (5U01HG006487-08). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/9949743. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*