Will RNA testing be the next Del/Dup for clinical genetics? with Rachid Karam, MD, PhD

• The diagnostic yield of hereditary cancer genetic testing has improved over time as new technologies have been established. Despite these improvements, a substantial proportion of patients undergoing DNA testing for hereditary cancer still either receive inconclusive results or remain without a molecular diagnosis. This webinar will demonstrate how concurrent DNA and RNA genetic testing increases detection of clinically- actionable variants and reduces variants of unknown significance (VUS).

  Objectives of this webinar include:

  • Explain basic information about the role of RNA genetic testing in variant detection and classification
  • Demonstrate the overall impact of concurrent DNA and RNA genetic testing on yield and VUS rates
  • Discuss specific case examples 

  Join us to learn how your patients may benefit from the addition of RNA genetic testing.

  

  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.

Rachid Karam, MD, PhD | Presenter

Director, ATG Lab

Rachid obtained his medical degree in Brazil, at the Federal University of Health Sciences of Porto Alegre, one of the most reputable medical schools in the country. Rachid has a PhD in Oncogenetics, and did his graduate studies on the role of the nonsense-mediated mRNA decay (NMD) pathway in the regulation of the CDH1 gene expression, at University of Porto, in Europe, and at MD Anderson Cancer Center, Houston, Texas. He did his postdoc at University of California, San Diego (UCSD) School of Medicine, where he focused on RNA biology research. Rachid joined Ambry Genetics in 2014, and currently he is the Director of Ambry’s Translational Genomics (ATG) Lab.

Ginger Haynes, MS, CGC, MBA | Moderator

Sr Manager Genetic Specialists

Ginger Haynes is a Senior Manager of Genetic Specialists at Ambry Genetics. In this role she leads a team of genetic experts as they assist in sales, client support and research. Prior to joining Ambry Ms. Haynes practiced as a clinical genetic counselor at Denver Health, the public safety net hospital in Colorado. She received her BS in Anthropology from University of California, Santa Barbara and her MS in Genetic Counseling from California State University Northridge. Ms. Haynes also holds an MBA in Health Care Management from Regis University. Her current research interest is in RNA functional studies in variant classification of alterations in hereditary cancer predisposition genes.