2016 Fall Symposium


Julianne M. O’Daniel, MS, CGC
Just Because We Can, Should We?
Exome Sequencing for Newborn Screening

Julianne M. O’Daniel, MS, CGC


Learning Outcomes:
  • Define the strengths and limitations of exome sequencing as a screening test in healthy newborns
  • Recognize clinical and ethical challenges including selection of genetic information to be returned and the role of parental choice to learn expanded categories of information
  • Describe the NC NEXUS approach for evaluating gene-condition pairs to assess medical actionability and guide the return of results

Julianne O'Daniel is a University of North Carolina at Chapel Hill genetic counselor with research interest in the practical applications of next-generation technologies, including the interpretation process, clinical applications, implementation, and essential support for patient and clinician use. Her research focuses on the application on exome sequencing in clinical diagnosis, newborn screening and population screening. As a member of the UNC Lineberger Comprehensive Cancer Center, she also has interest in accessible population screening for hereditary cancer syndromes as well as the emergence of tumor/normal sequencing for targeted therapy. Julianne directs the UNC Clinical Cancer & Adult Genetics service and owns her own biotech consulting company, Red Clay DNA. She is currently a member of multiple NIH funded research teams, including NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing and NCNEXUS: North Carolina Newborn Exome Sequencing for Universal Screening.