Diagnosis: Detecting pathogenic variants beyond standard multigene panel sequencing with Elizabeth Chao, M.D., FACMG

• In this lecture, I will review standard molecular diagnostic methodologies based on short read NGS, and highlight strengths and weaknesses of the platforms. We will explore additional technologies, both in silico and laboratory-based for increasing diagnostic yield and looking beyond simple changes in the DNA sequence. Case examples will highlight diagnostic odysseys and strategies to interrogate complex genomic regions.

  Level of Instruction: Intermediate

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Elizabeth Chao, MD, FACMG | Presenter

Chief Medical Officer

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.

Jessica Scott, MGC, CGC | Moderator

Genomic Science Liason II

Jessica Scott, MGC, CGC is a Genomic Science Liaison at Ambry Genetics. Jessica obtained her undergraduate degree in Biology from Radford University in 2002 and graduated from the University of Maryland Master’s in Genetic Counseling (MGC) Training Program in 2005. She practiced clinically in various genetic counseling subspecialties for over fifteen years with a consistent focus on oncology genetics before joining Ambry. Jessica has an interest in the continued education of genetic counselors; she remains actively engaged in the University of Maryland genetic counseling training program and is a coordinator of Ambry’s Case Café webinar series.