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Counseling Low Level Pathogenic Results

Wednesday, July 24, 2024
4:00am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

In this lecture I will review standard NGS methodology and distribution of variant allele fraction, including possible interpretations. We will explore the clinical interpretation for these findings in the context of specific clinical presentations and the recommendations for counseling, risk interpretation, and follow-up testing or management.

Level of Instruction: Intermediate

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Elizabeth Chao
Chief Medical Officer at Ambry Genetics
Dr. Chao is a Clinical Geneticist who is also board-certified in Clinical Molecular Genetics and first joined Ambry Genetics in 2011. She completed her training at the Children’s Hospital of Philadelphia and has more than ten years of experience in the clinical laboratory. As Chief Medical Officer, she focuses on excellence and innovation in the […]

Elizabeth Chao, MD, FACMG is board-certified by the ABMGG in Clinical Genetics and Genomics and Clinical Molecular Genetics. She completed her medical training at UC Irvine and at the Children’s Hospital of Philadelphia and has more than ten years of experience in the clinical practice. In 2013, Dr. Chao joined the faculty of the UC Irvine’s College of Medicine in the Division of Genetics and since 2011 also serves as a Laboratory Director and Chief Medical Officer at Ambry Genetics, a commercial genetic testing laboratory. Prior to joining Ambry, Dr. Chao was an Associate Laboratory Director at the University of Pennsylvania Genetic Diagnostic Laboratory and also a Howard Hughes Research Scholar the National Human Genome Research Institute where her research focused on the development of novel genomic technologies, such as array-based comparative genomic hybridization (aCGH) and their application to cancer risk and prognosis. Dr. Chao has served on the ACMG Laboratory Quality Assurance Committee 2015-2020, and continues to be deeply involved in efforts through ACMG as well as ClinGen to develop professional standards for clinical laboratory testing and variant assessment. At UC Irvine, Dr. Chao teaches molecular genetics in the Shool of Medicine, supervises the hereditary cancer genetics service, and also covers the clinical genetics consult service which primarily serves NICU and pediatric patients who present with congenital anomalies or other signs of heritable disorders.

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Margo Gallegos
Genomic Science Liaison at Ambry Genetics
Margo Gallegos joined Ambry Genetics in 2020 as the Specialty Genomic Science Liaison for the Northeast United States territory. She previously worked as a pediatric genetic counselor at Children’s National Medical Center in Washington, D.C, and an oncology genetic counselor at Anne Arundel Medical Center in Annapolis, MD. Her volunteer interests include public policy and […]

Margo Gallegos joined Ambry Genetics in 2020 as the Specialty Genomic Science Liaison for the Northeast United States territory. She previously worked as a pediatric genetic counselor at Children’s National Medical Center in Washington, D.C, and an oncology genetic counselor at Anne Arundel Medical Center in Annapolis, MD. Her volunteer interests include public policy and licensure of genetic counselors both at the state and federal level. Margo received her Bachelors of Science degree in Cell Biology and Genetics from University of Maryland, College Park. She earned her Masters of Science degree in Genetic Counseling from University of South Carolina School of Medicine and is certified by the American Board of Genetic Counseling.