Clinical Informatics
NCNEXUS
Description
North Carolina Newborn Exome Sequencing for Universal Screening (NCNEXUS) studied the feasibility of incorporating whole exome sequencing into routine newborn screening.
RENCI's Role
Genomic medicine has tremendous potential to improve the health of children by facilitating more accurate diagnosis, deeper insight into mechanisms of disease, and individually targeted prevention and treatment. In particular, whole exome sequencing can be used to identify genetic variants associated with diseases and help inform decision making by clinicians, patients, and their families when such variants are found.
Expanding upon the NCGENES project, led by RENCI and partners from the University of North Carolina at Chapel Hill, NCNEXUS aimed to determine whether genomic testing can be an effective tool for pediatricians to incorporate alongside existing tests for genetic disorders such as cystic fibrosis and phenylketonuria.
RENCI developed an automated workflow to track a patient’s genetic information from the initial consultation, to genetic sample preparation made at various labs, to high throughput sequencing and data analysis. The system alerts the labs when samples leave one site to head to another and allows researchers to easily locate all samples. RENCI is also working to implement an analysis system to classify the genetic data based on whether or not a variant has been found and what it could potentially mean.
