ExomeReveal: Adding the Power of RNA Analysis to Exome Testing with Dana Mittag, MS, CGC and Brian Schoenfeld, MS, LGC

Exome testing has proven to be a powerful tool in identifying a diagnosis in people with congenital anomalies, intellectual disability, developmental delay, epilepsy, autism, and other neurodevelopmental disorders. Laboratories continue to explore test enhancements that can improve exome testing. Recently, Ambry Genetics launched ExomeReveal, an exome test that adds the power of RNA analysis to exome testing, increasing the diagnostic yield and lowering the rate of variants of uncertain significance (VUS).

Learning Objectives
1. Explain the key features, benefits, and underlying technology of ExomeReveal.
2. Define how the addition of RNA analysis to exome testing provides a deeper level of information when evaluating potential splice site variants.
3. Discuss future directions for RNA analysis and other supplemental technologies to enhance diagnostic yield.
*CEU credit is not available for this webinar.*

Dana Mittag, MS, CGC | Presenter

Genetic Counselor II at Levine Children's Specialty Center

Dana Mittag is a pediatric genetic counselor at Atrium Health in Charlotte, NC. She counsels families in the Metabolic and Rare Disease programs at Levine Children’s Specialty Center. Dana received her Bachelor of Science degree in Genetics, Genomics, and Development from Cornell University. She earned her Master of Science degree in Genetic Counseling from the University of South Carolina School of Medicine. She is certified by the American Board of Genetic Counseling.

Brian Schoenfeld, MS, LCGC | Presenter

Manager, Genomic Science Liaison at Ambry Genetics

Brian Schoenfeld has an undergraduate degree from the State University New York @ Albany. After graduating he spent several years in the corporate world, he then decided to change professions to pursue a career in the Life Sciences. For over eight years, Brian worked in basic science research, using behavioral assays in animal models to elucidate the mechanism of inherited neurological disorders such as Fragile X Syndrome and early on-set Alzheimer's. After working in labs at the University of Pennsylvania and Albert Einstein College of Medicine, he decided that Genetic Counseling was his calling. He graduated from the Genetic Counseling program at Arcadia and began working for Ambry in 2015. Brian is a board-certified genetic counselor and a licensed GC in the state of NJ. He has been a co-author on several peer-reviewed and well cited articles, makes excellent pancakes and is the proud father of Emma and Juliette.

Melissa Holman, MS, CGC | Moderator

Sr. Genomic Science Liaison at Ambry Genetics

Melissa Holman is a certified genetic counselor and Cardiology & Rare Disease Genomic Science Liaison at Ambry Genetics. She completed her BS in Genetics with a minor in Psychology at Clemson University and received her Masters of Science in Genetic Counseling from Virginia Commonwealth University. After graduate school, Melissa worked for several years as a genetic counselor in South Bend, Indiana. In 2019 she moved to Winston Salem, NC and transitioned to her current role at Ambry Genetics. As a Genomic Science Liaison, she serves as a clinical liaison for the field team to educate health care providers and other key opinion leaders on genetic testing and genomic medicine.