Southeastern Genomic Medicine eConsult Network (SeGMeNt)

NIH RePORTER · HG · U01 · $3,039,191 · view on reporter.nih.gov ↗

Abstract

Advances in our understanding of the role of genetic variation in human diseases and the technologies for genomic analysis and therapy have the potential to revolutionize health care. Clinical sequencing has become a routine tool for diagnosis of patients with rare monogenic diseases, pharmacogenomics is increasingly used to optimize therapy, and deep analysis of the genomic aberrations in tumors is now routinely able to identify targetable mutations. Genomic approaches are now poised to be widely employed in screening for monogenic conditions, prenatal chromosomal disorders, and cancer. However, there are major barriers to the broad dissemination of these advances. Specialists with expertise in these areas are scarce and typically concentrated in academic or population centers, creating long wait times for outpatient consultations and potentially requiring patients to travel long distances to be seen. Rapidly evolving testing options and the complexity of the results make it difficult for non specialists to stay current with the knowledge required to make use of new technologies. The small amount of time permitted for routine visits and lack of focus on rare diseases in primary care means that most providers are ill-equipped to handle complex diagnostic or management questions for most monogenic conditions. Fragmentation of the U.S. healthcare system and lack of harmonized electronic health record systems for all patients prevents the broad use of computational decision support across the population. However, novel practice paradigms such as virtual care including electronic consults (eConsults) could serve as a mechanism to disseminate genomic medicine knowledge and expertise, increasing access to genetic testing and expert interpretation of genetic and genomic findings, and ultimately bringing the future vision of genomic medicine closer to reality. This proposal seeks to examine the implementation of genomic medicine eConsults through a multi-state network of ex

Key facts

NIH application ID
11099241
Project number
1U01HG014142-01
Recipient
UNIV OF NORTH CAROLINA CHAPEL HILL
Principal Investigator
JONATHAN S BERG; MELISSA A HAENDEL
Activity code
U01
Funding institute
HG
Fiscal year
2026
Award amount
$3,039,191
Award type
1
Project period
2026-04-10T00:00:00 → 2028-03-31T00:00:00