Patient for Life: When New Evidence Changes Everything with Meghan Towne, MS, CGC, LGC

• In this webinar, we will explore the evolving landscape of exome sequencing (ES) reanalysis and its critical role in improving diagnostic outcomes. Participants will begin by examining the clinical importance and the rationale for reanalyzing ES data over time. The session will then compare different reanalysis approaches—laboratory-driven, clinician-initiated, and family study-based—highlighting their respective efficiencies and limitations. Finally, we will assess the types of evidence that most effectively drive reclassification, such as emerging gene-disease associations, updated public databases, and evolving variant interpretation guidelines. Case examples and cohort data will be used to illustrate key points and support practical application in clinical and laboratory 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.

Meghan Towne, MS, CGC, LCGC | Presenter

Genomic Science Liaison II at Ambry Genetics

After obtaining her B.S. in biology with a minor in chemistry from Boston College in 2007, Meghan attended Boston University School of Medicine for her graduate studies in Genetic Counseling. Her studies piqued her interest in the impact of innovative technologies on diagnosing and connecting families with rare genetic disorders. Meghan worked for seven years at Boston Children’s Hospital developing the institutional infrastructure for gene discovery, enhancing research collaborations, and evaluating the utility of genomic sequencing in newborns. In 2016, Meghan joined Ambry as a reporting genetic counselor on the clinical genomics team. She maintains her research connections to the Boston community by serving as a voting member of the Massachusetts General Hospital IRB and as a course coordinator for research seminar series at Boston University.

Melissa Holman, MS, CGC | Moderator

Senior 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.