Duke Task Force For Neonatal Genomics

The Duke Task Force for Neonatal Genomics was formed in early 2011 to bring patients, researchers, and clinicians together to use genomic technologies in order to assist the diagnosis of newborns and young children with challenging clinical cases.

By sequencing children early in life, clinicians can make use of personalized genomic information that, in combination with all of the other tools doctors have at their disposal, can improve patient management and outcomes.

We hope and expect that by engaging families at the beginning of patients lives and by recognizing their indispensable contributions to Task Force diagnostic efforts, we can begin to deliver answers to families, improve patient care, develop lasting partnerships with families in need, and realize the promise of the human genome.

The Task Force relies on multiple disciplines from across Duke to confront the challenges presented by infants and children with complex clinical presentations and uncertain diagnoses. This exploratory center draws from our strengths in:

  • Clinical assessment
  • Genetic counseling
  • Whole genome or exome sequencing (sequencing the DNA fraction that codes for proteins)
  • Interpreting DNA changes in the genome and understanding effects on organ biology
  • Conveying genomic information to families and recognizing what it means to them