MAY 28, 2014 09:00 AM PDT

Keynote: Establishing an economic BRCA1 and BRCA2 (BRCA) gene analyses research workflow using custom AmpliSeq panel design and the Ion PGM System

  • Director, Clinical Cancer Genetics, Professor, Director, Cancer Screening & Prevention City of Hope
      Dr. Jeffrey N. Weitzel is Chief of the Division of Clinical Cancer Genetics and the Cancer Screening & Prevention Program at the City of Hope Comprehensive Cancer Center. He received his medical degree from the University of Minnesota, is Board Certified in clinical genetics and medical oncology, and is a Professor of Oncology and Population Sciences at the City of Hope and a Clinical Professor of Preventive Medicine at the University of Southern California School of Medicine. At the vanguard of personalized medicine, Dr. Weitzels multidisciplinary clinical, research, and training programs emphasize translational research in genetic cancer risk assessment, chemoprevention, targeted therapy, clinical and psychosocial outcomes, genetic epidemiology and health services research in underserved minorities, and hereditary cancer in Latin America. He is a member of the American Society of Clinical Oncology and the National Comprehensive Cancer Network Genetics/Familial Risk Assessment practice guidelines committee. Dr. Weitzel is the principal investigator for the City of Hope Cancer Genetics Education Program and for the Clinical Cancer Genetics Community Research Network, which are funded by the National Cancer Institute.


    While the "Jolie effect" has refocused attention on the central role of BRCA gene analyses in the diagnosis and prevention of hereditary breast and ovarian cancer, there is a global disparity in access to affordable testing. The development of bench top NGS technologies holds promise for faster, more comprehensive and cost-effective methodologies than Sanger sequencing.

    The goal of the study was to create a global consortium for developing and demonstrating the feasibility of a shared, dedicated workflow that may develop into a clinical grade BRCA gene analyses using Ion AmpliSeqTM multiplex PCR technology combined with the Ion PGMTM Sequencer.

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