Quality in Genetic Testing Laboratories: Opening the Black Box with Carrie Horton, MS, CGC and Elizabeth Chao, MD, FACMG

Adoption of next generation sequencing (NGS) panel testing has allowed for simultaneous testing of multiple genetic causes and decreased the cost of genetic testing. Technical standards for diagnostic gene sequencing panels have been developed by the American College of Medical Genetics (ACMG) to promote best practices in panel design and technical considerations, though adherence to these standards is voluntary. Here we review quality measures aimed to optimize test accuracy and clinical utility, using case-based examples to demonstrate impact.

Carrie Horton, MS, CGC | Presenter

Sr. Clinical Research Specialist, Ambry Genetics

Ms. Horton received her M.S. in Genetic Counseling from Arcadia University and practiced clinically as a cancer genetic counselor in Memphis, TN prior to joining Ambry Genetics 6 years ago. As a reporting genetic counselor at Ambry, she performed variant assessment, generated reports for oncology tests, and curated clinical literature for report content. In her current role as Sr. Clinical Research Specialist, she designs and conducts studies focusing on the translational application of Ambry's research. Ms. Horton's research interests include improving the clinical utility of and increasing access to genetic testing.

Elizabeth Chao, MD, FACMG | Presenter

Director, Medical Genetics and Assistant Professor, University of California, Irvine; Sr. Laboratory Director, Ambry Genetics

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 the Hereditary Cancer Predisposition clinic, and Dr. Chao is also Senior Laboratory Director at Ambry Genetics. She has served on the ACMG Laboratory Quality Assurance Committee since 2015, and been deeply involved in effort through ACMG as well as ClinGen to develop professional standards for clinical laboratory testing and variant assessment.

Tara Namey, MS, LCGC | Moderator

Sr. Genomic Science Liaison, Ambry Genetics

Tara Namey joined Ambry Genetics in 2016 as an Oncology Genomic Science Liaison. Prior to joining Ambry, Tara was employed for 16 years at Lehigh Valley Health Network during which time she played an integral role in the development and growth of the Greg and Lorraine Harper Cancer Genetics Program. During her time there, Tara served as both Manager and Senior Genetic Counselor. Tara received her Bachelors of Science degree in Biology/Pre-Med from the University of Scranton. She earned her Masters of Science degree in Genetic Counseling from California State University, Northridge and is board-certified by the American Board of Genetic Counseling.