Southeastern Genomic Medicine eConsult Network (SeGMeNt)

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 experts linked via informatics infrastructure that facilitates communication between the referring provider and the consultant, informed by stakeholder input ranging from clinical providers to community members to administrative leaders. We will study the barriers and facilitators to the adoption of genomic medicine eConsults for clinical questions ranging from helping with the diagnostic work-up of a patient with suspected rare disease, interpretation of genetic test results and their implications for the patient, management of patients already diagnosed with a rare disease, and next steps for patients with positive/abnormal genomic screening results. Key outcomes will include patient and provider response to the use of eConsults, perspectives on the value of this approach by administrative stakeholders and payers, and understanding the conditions required for such a practice to be sustainable. Accumulation of a corpus of completed eConsults will also enable scaling and knowledge transfer through the use of modern AI technologies and dissemination into healthcare systems. The translational implementation science research herein will inform the expansion of genomic medicine eConsults broadly across the US. Project Number: 1U01HG014142-01 | Fiscal Year: 2026 | NIH Institute/Center: National Human Genome Research Institute (NHGRI) | Principal Investigator: JONATHAN BERG (+1 co-PI) | Institution: UNIV OF NORTH CAROLINA CHAPEL HILL, CHAPEL HILL, NC | Award Amount: $3,039,191 | Activity Code: U01 | Study Section: Special Emphasis Panel[ZHG1 HGR-W (J1)] View on NIH RePORTER: https://reporter.nih.gov/project-details/11099241