BRCA Testing Overview

Agenda:

Quick Ambry Genetics Overview

BRCA1/2 Testing Methodology

Analytic Sensitivity and Accuracy

Variant Classification Approach

Review of Initial Data

Q&A

AJ Stuenkel
AJ Stuenkel
MS,CGC
AJ Stuenkel is a genetic counselor by training with a passion for leveraging technology to improve result quality and talent use. In his role as Vice President of Clinical Diagnostics at Ambry Genetics, AJ oversees post-analytical functions within clinical operations, including result analysis, interpretation, and reporting. Since joining Ambry in 2011, AJ has focused on […]

Mr. Stuenkel joined Ambry following his graduate training at Boston University School of Medicine, where he earned an M.S. in Genetic Counseling. He also holds a B.S. in Genetics from the University of California, Davis and prior to his current position, worked as a clinical cancer research coordinator at Massachusetts General Hospital. Mr. Stuenkel is a member of the National Society of Genetic Counselors (NSGC) and is board certified by the American Board of Genetic Counseling (ABGC). 

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Elizabeth Chao
M.D.
Elizabeth Chao, MD, FACMG is a Clinical Geneticist who is also board-certified in Clinical Molecular Genetics. She completed her training at the Children’s Hospital of Philadelphia and has nearly ten years of experience in the clinical laboratory. Currently she is on faculty at the University of California, Irvine as an attending Geneticist where she directs […]

 Dr. Chao graduated with honors from UCLA with a B.S. in Microbiology and Molecular Genetics and received her M.D. from the University of California, Irvine. She completed her training in Clinical Molecular Genetics at the Children’s Hospital of Philadelphia (CHOP) and previously served as Associate Director of the Genetic Diagnostic Lab at the University of Pennsylvania. As a Howard Hughes Scholar at the National Human Genome Research Institute (NHGRI), Dr. Chao specialized in genomic technologies such as the development of array-CGH, and applications to cancer genetics. Currently, Dr. Chao is also on faculty at UC Irvine where her research focuses on novel methods for interpreting DNA variants in genomic data sets.