Clinical Next-generation sequencing for constitutional disorders and cancer management

International Conference and Exhibition on Molecular Medicine and Diagnostics

August 24-26, 2015 London, UK

Peter L Nagy

Scientific Tracks Abstracts: J Mol Genet Med

Abstract :

Our laboratory of Personalized Genomic Medicine (LPGM) at Columbia University Medical Center started to offer clinical whole
exome sequencing (WES) in January 2013. We processed and issued reports on over 500 cases, mostly trios. The majority of these
samples are from the pediatric population (>80%). The most common clinical scenario is a child with developmental or intellectual
delay with or without dismorphic features with clinically unaffected parents. In almost every case, patients have had extensive genetic
workup prior to WES including biochemical, mitochondrial, single-gene testing, targeted gene panel, traditional karyotyping and
microarray chromosome analysis. Of the cases analyzed to date we have identified pathogenic or probable pathogenic mutations
responsible for the patients’ condition in about 30 percent of the cases. Continued improvement and automation of the analytical
pipeline allowed for identification of novel connections between genes and disease in several constitutional genetic disorders.
Through my presentation the audience will obtain an understanding of the current state of the art of clinical genomic testing; they
will become familiar with the major factors that determine the precision and sensitivity of pathogenic mutation detection; have a
thorough understanding of the importance of proper implementation of structural and functional basic science data sources into
the clinical analysis pipeline. I will outline the contribution of clinical data collection to discoveries in basic science and review the
obstacles to and opportunities for more efficient collaboration between clinical medical centers and the pharmaceutical industry.

Biography :

Peter L Nagy received his MD degree from the University of Pecs, Hungary in 1989. He obtained his PHD at Purdue University in Biochemistry under the mentorship of Dr.
Howard Zalkin and his Anatomic and Molecular Genetic Pathology training at Stanford University working on the MLL gene with Michael Cleary and Roger Kornberg. His
research is on neurodegenerative disorders like ALS and young adult onset ataxias (AOA2). He built and oversees the clinical next-generation sequencing facility in the
Laboratory of Personalized Genomic Medicine at Columbia University Medical Center.