Somatic Interference: Incidental Detection of Somatic Variants in Germline Testing with Elizabeth Chao, MD, FACMG

• Recent advances in DNA sequencing technology now make it possible to begin examining the full scope of DNA variation that arises over the course of an individual’s lifetime. This includes the ability to study the inherited germline as well as any changes in response to external exposures, and this capability has grown in parallel with the improved availability of next generation sequencing (NGS) based testing. This webinar will review the risk that somatic variation found by laboratories performing germline genome testing for heritable conditions can confound diagnosis of a Mendelian condition, and how it also has the potential to confound entries into variant interpretation databases. We will also review strategies to clarify laboratory results which include DNA variants of uncertain origin, and the value of further clinical evaluations in these settings.

  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

Director, Medical Genetics and Assistant Professor, University of California Irvine; Laboratory Director and VP, Clinical Diagnostics, 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 a Laboratory Director and VP of Clinical Diagnostics at Ambry Genetics. She served on the ACMG Laboratory Quality Assurance Committee from 2015-2020, and been deeply involved in effort through ACMG as well as ClinGen to develop professional standards for clinical laboratory testing and variant assessment.

Jill S. Dolinsky, MS, CGC | Moderator

Director, Clinical Affairs, Ambry Genetics

Jill S. Dolinsky, MS, CGC is the Director of Clinical Affairs at Ambry Genetics. In this role, she drives efforts to enhance patient access to genetic testing by demonstrating the clinical utility of molecular genetic testing through data sharing, peer-review publication, and engagement with professional societies. Her current research interests include the clinical utility of multigene panel testing for hereditary cancer and cardiovascular diseases, the importance of broad data sharing in the interpretation of genomic data, increasing patient access to genetic counseling and testing through innovative service delivery models and the assessment of rare variants. Prior to joining Ambry in 2011, she worked in cardiovascular genetics at the University of Miami Miller School of Medicine, researching genetic etiologies of familial dilated cardiomyopathy along with practicing clinical cardiovascular genetics. In addition, she spent four years practicing cancer genetic counseling in the University of Pennsylvania Health System. She has more than 50 peer-reviewed publications in molecular genetics and has been an invited lecturer at numerous scientific meetings.