MAY 11, 2016 1:30 PM PDT

Pediatric genetics - Applications of NGS in the Clinic

Speaker
  • Director of Laboratory Operations, Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Assistant Professor, University of Missouri-Kansas City, School of Medicine
    Biography
      Emily Farrow joined the Center as a research scientist in February 2012. She is an assistant Professor at the University of Missouri-Kansas City School of Medicine and has a secondary appointment at the Indiana University School of Medicine in the Department of Medical and Molecular Genetics. She obtained her M.S. in Genetic Counseling from the Indiana University School of Medicine in 2006 followed by her Ph.D. in Molecular Genetics in 2009. She completed a postdoctoral fellowship supported by a National Kidney Foundation research grant in phosphate regulation at Indiana University School of Medicine. Dr. Farrow is also a board certified genetic counselor. Her research interests include metabolic bone disorders and the role of genetic counseling in genomic medicine.

    Abstract

    The rapid implementation of next generation sequencing is changing how genetics and genomics are applied in a clinical setting. However, the quickly evolving technology can be challenging to implement. The Center for Pediatric Genomic Medicine at Children's Mercy Hospital has been using NGS in both a research and clinical setting since its inception. Currently the center offers targeted panels, symptom driven exome, and whole genome sequencing clinically. This presentation will outline applications of next generation sequencing in a pediatric hospital. Real case examples will be used to highlight best use practices. The limitations and benefits of NGS in the clinic will be discussed. Additionally, the intersection of research and clinical testing, and how it is particularly applicable in genomic medicine will be discussed.

    At the end of this presentation participants will:

    • Understand different applications of targeted, whole exome, and whole genome testing.
    • Recognize how NGS is impacting clinical care. 

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